Database TAZbase
Version 1.2
File tazpub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/TAZbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF134.html
Gene TAZ
Disease Barth syndrome
OMIM 300394
GDB 120609
Sequence IDRefSeq:D0087; IDRefSeq:C0087; UniProt:Q16635
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID @H4X133(1); standard; MUTATION; TM
Accession T0033
Systematic name g.1312_1313insG, c.9_10insG, r.9_10insg, p.His4fsX130
Original code Propand 1
Description A frame shift insertion mutation in the exon 1 leading to
Description a premature stop codon in the TM domain
Date 17-Aug-2004 (Rel. 1, Created)
Date 17-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10484795
RefAuthors Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P.
RefAuthors W., Newbury-Ecob, R. A., Steward, C. G.
RefTitle Genetic analysis of the G4.5 gene in families with
RefTitle suspected barth syndrome.
RefLoc J Pediatr 135:311-315 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0087: 1313
Feature /change: +g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 298
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 4
Feature /change: H ->
Feature /change: AREVAVPRGA AAHLDPGQQR RHGLGGHLQL LLDQVHEPPD
Feature /change: RAQQGGAVRA HREARPGHAP HHRVQSPVLH GRPSSLGDPE
Feature /change: TPPHLEPEVD ALDPCSCRHL LHQGATLPLL QLGQVCACVP
Feature /change: RSRIFPSREX
Feature /domain: TM
Diagnosis Barth syndrome
Sex XY
Comment Left ventricular shortening fraction -32%. medication:
Comment digoxin and diuretics.
//
ID #T18X132(1); standard; MUTATION; TM
Accession T0010
Systematic name g.1356_1357delCC, c.53_54delCC, r.53_54delcc,
Systematic name p.Leu19fsX114
Original code Family 1
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon in the TM domain
Date 13-Aug-2004 (Rel. 1, Created)
Date 13-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 1356..1357
Feature /change: -cc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 341..342
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 18
Feature /change: T ->
Feature /change: TGQQRRHGLG GHLQLLLDQV HEPPDRAQQG GAVRAHREAR
Feature /change: PGHAPHHRVQ SPVLHGRPSS LGDPETPPHL EPEVDALDPC
Feature /change: SCRHLLHQGA TLPLLQLGQV CACVPRSRIF PSREX
Feature /domain: TM
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID #H41X42(1); standard; MUTATION;
Accession T0040
Systematic name g.1560delC, c.123delC, r.123delc, p.Leu42fsX1
Original code Family BSH, Patient II-4
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 1560
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 411
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 41
Feature /change: H -> HX
Diagnosis Barth syndrome
Symptoms Infantile hypertrophic dilated cardiomyopahy, congestive
Symptoms heart failure, growth retardation, neutropenia,
Symptoms 3-methylglutaconic aciduria
Sex XY
Family history Inherited
//
ID T43P(1); standard; MUTATION;
Accession T0085
Systematic name g.1564A>C, c.127A>C, r.127a>c, p.Thr43Pro
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19261493
RefAuthors Bachou, T., Giannakopoulos, A., Trapali, C., Vazeou, A.,
RefAuthors Kattamis, A.
RefTitle A novel mutation in the G4.5 (TAZ) gene in a greek patient
RefTitle with barth syndrome.
RefLoc Blood Cells Mol Dis:262-264 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1564
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 415
Feature /codon: acc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 43
Feature /change: T -> P
Diagnosis Barth syndrome
Symptoms Growth delay; Cyanosis; Tachypnea; Tachycardia;
Age 5.5 mo
Sex XY
Comment Patient's mother was found to be heterozygous carier of
Comment the same mutation.
Comment Patient died of heart failure at the age of 28 months.
//
ID #R47X78(1a); standard; MUTATION;
Accession T0025
Systematic name g.1577_1589delGGGAGGTGCTGTA, c.140_152delGGGAGGTGCTGTA,
Systematic name r.140_152delgggaggugcugua, p.Arg47fsX32
Original code BM
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
RefNumber [2]
RefCrossRef PUBMED; 6142097
RefAuthors Barth, P. G., Scholte, H. R., Berden, J. A., Van der Klei-
RefAuthors Van Moorsel, J. M., Luyt-Houwen, I. E., Van 't Veer-
RefAuthors Korthof, E. T., Van der Harten, J. J., Sobotka-Plojhar,
RefAuthors M. A.
RefTitle An X-linked mitochondrial disease affecting cardiac
RefTitle muscle, skeletal muscle and neutrophil leucocytes.
RefLoc J Neurol Sci 62:327-355 (1983)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 1577..1589
Feature /change: -gggaggtgct gta
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 428..440
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 47..51
Feature /change: REVLY -> TSSSRSEARP RPSSPCPITS PAWTTLISGG SX
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0026 brother
//
ID #R47X78(1b); standard; MUTATION;
Accession T0026
Systematic name g.1577_1589delGGGAGGTGCTGTA, c.140_152delGGGAGGTGCTGTA,
Systematic name r.140_152delgggaggugcugua, p.Arg47fsX32
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 1577..1589
Feature /change: -gggaggtgct gta
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 428..440
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 47..51
Feature /change: REVLY -> TSSSRSEARP RPSSPCPITS PAWTTLISGG SX
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0025 brother
//
ID Y51X(1a); standard; MUTATION;
Accession T0001
Systematic name g.1590C>G, c.153C>G, r.153c>g, p.Tyr51X
Original code V-224
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
RefNumber [2]
RefCrossRef PUBMED; 1998334
RefAuthors Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J., Baas,
RefAuthors F., Barth, P. G.
RefTitle Mapping of the locus for X-linked cardioskeletal myopathy
RefTitle with neutropenia and abnormal mitochondria (barth
RefTitle syndrome) to xq28.
RefLoc Am J Hum Genet 48:481-485 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1590
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 441
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 51
Feature /change: Y -> X
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0002 cousin
Relative TAZbase; T0003 cousin
//
ID Y51X(1b); standard; MUTATION;
Accession T0002
Systematic name g.1590C>G, c.153C>G, r.153c>g, p.Tyr51X
Original code V-23
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
RefNumber [2]
RefCrossRef PUBMED; 1998334
RefAuthors Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J., Baas,
RefAuthors F., Barth, P. G.
RefTitle Mapping of the locus for X-linked cardioskeletal myopathy
RefTitle with neutropenia and abnormal mitochondria (barth
RefTitle syndrome) to xq28.
RefLoc Am J Hum Genet 48:481-485 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1590
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 441
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 51
Feature /change: Y -> X
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0001 cousin
Relative TAZbase; T0003 cousin
//
ID Y51X(1c); standard; MUTATION;
Accession T0003
Systematic name g.1590C>G, c.153C>G, r.153c>g, p.Tyr51X
Original code V-12
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
RefNumber [2]
RefCrossRef PUBMED; 1998334
RefAuthors Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J., Baas,
RefAuthors F., Barth, P. G.
RefTitle Mapping of the locus for X-linked cardioskeletal myopathy
RefTitle with neutropenia and abnormal mitochondria (barth
RefTitle syndrome) to xq28.
RefLoc Am J Hum Genet 48:481-485 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1590
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 441
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 51
Feature /change: Y -> X
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0001 cousin
Relative TAZbase; T0002 cousin
//
ID Y51X(2); standard; MUTATION;
Accession T0075
Systematic name g.1590C>G, c.153C>G, r.153c>g, p.Tyr51X
Original code P5
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14764526
RefAuthors Kuijpers, T. W., Maianski, N. A., Tool, A. T., Becker, K.,
RefAuthors Plecko, B., Valianpour, F., Wanders, R. J., Pereira, R.,
RefAuthors Van Hove, J., Verhoeven, A. J., Roos, D., Baas, F., Barth,
RefAuthors P. G.
RefTitle Neutrophils in barth syndrome (BTHS) avidly bind annexin-V
RefTitle in the absence of apoptosis.
RefLoc Blood:3915-3923 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1590
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 441
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 51
Feature /change: Y -> X
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, 3-Methyl glutaconic aciduria
Age 15
Sex XY
//
ID Y51X(3); standard; MUTATION;
Accession T0083
Systematic name g.1590C>G, c.153C>G, r.153c>g, p.Tyr51X
Original code patient
Description A point mutation in the exon 2 leading to a premature stop
Description codon
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17846786
RefAuthors Yen, T. Y., Hwu, W. L., Chien, Y. H., Wu, M. H., Lin, M.
RefAuthors T., Tsao, L. Y., Hsieh, W. S., Lee, N. C.
RefTitle Acute metabolic decompensation and sudden death in barth
RefTitle syndrome: report of a family and a literature review.
RefLoc Eur J Pediatr (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1590
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 441
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 51
Feature /change: Y -> X
Diagnosis Barth syndrome
Symptoms Hypotonia, dilated cardiomyopathy, neutropenia, severe
Symptoms metabolic acidosis
Age 0
Sex XY
Ethnic origin Mongoloid; China
Family history Inherited
//
ID @L53X133(1); standard; MUTATION;
Accession T0066
Systematic name g.1594dupC, c.157dupC, r.157dupc, p.Leu53fsX81
Original code Sporadic-102
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16427346
RefAuthors Xing, Y., Ichida, F., Matsuoka, T., Isobe, T., Ikemoto,
RefAuthors Y., Higaki, T., Tsuji, T., Haneda, N., Kuwabara, A., Chen,
RefAuthors R., Futatani, T., Tsubata, S., Watanabe, S., Watanabe, K.,
RefAuthors Hirono, K., Uese, K., Miyawaki, T., Bowles, K. R., Bowles,
RefAuthors N. E., Towbin, J. A.
RefTitle Genetic analysis in patients with left ventricular
RefTitle noncompaction and evidence for genetic heterogeneity.
RefLoc Mol Genet Metab:71-77 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 1595
Feature /change: +c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 446
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 53
Feature /change: L ->
Feature /change: PHREARPGHA PHHRVQSPVL HGRPSSLGDP ETPPHLEPEV
Feature /change: DALDPCSCRH LLHQGATLPL LQLGQVCACV PRSRIFPSRE X
Diagnosis Barth syndrome/isolated left ventricular noncompaction
Symptoms Movement developmental delay, growth retardation, typical
Symptoms myopathic face, decreased myodynamia and deep tendon
Symptoms reflex, neutropenia and elevated urinary 3-methylglutaconic
Symptoms acid were identified leading to the diagnosis of BTHS with
Symptoms LVNC, the echocardiogram demonstrated myocardial
Symptoms insufficiency and a noncompacted myocardium.
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
//
ID R57L(1); standard; MUTATION;
Accession T0073
Systematic name g.1607G>T, c.170G>T, r.170g>u, p.Arg57Leu
Original code P1
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14764526
RefAuthors Kuijpers, T. W., Maianski, N. A., Tool, A. T., Becker, K.,
RefAuthors Plecko, B., Valianpour, F., Wanders, R. J., Pereira, R.,
RefAuthors Van Hove, J., Verhoeven, A. J., Roos, D., Baas, F., Barth,
RefAuthors P. G.
RefTitle Neutrophils in barth syndrome (BTHS) avidly bind annexin-V
RefTitle in the absence of apoptosis.
RefLoc Blood:3915-3923 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1607
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 458
Feature /codon: cga -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 57
Feature /change: R -> L
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, 3-Methyl glutaconic aciduria
Age 0,7
Sex XY
//
ID R57L(2); standard; MUTATION;
Accession T0077
Systematic name g.1607G>T, c.170G>T, r.170g>u, p.Arg57Leu
Original code P7
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14764526
RefAuthors Kuijpers, T. W., Maianski, N. A., Tool, A. T., Becker, K.,
RefAuthors Plecko, B., Valianpour, F., Wanders, R. J., Pereira, R.,
RefAuthors Van Hove, J., Verhoeven, A. J., Roos, D., Baas, F., Barth,
RefAuthors P. G.
RefTitle Neutrophils in barth syndrome (BTHS) avidly bind annexin-V
RefTitle in the absence of apoptosis.
RefLoc Blood:3915-3923 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1607
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 458
Feature /codon: cga -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 57
Feature /change: R -> L
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy
Sex XY
//
ID #R57X82(1); standard; MUTATION;
Accession T0014
Systematic name g.1608delA, c.171delA, r.171dela, p.Gly58fsX25
Original code Family 5,;[2]Pedigree 3
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 1719174
RefAuthors Kelley, R. I., Cheatham, J. P., Clark, B. J., Nigro, M.
RefAuthors A., Powell, B. R., Sherwood, G. W., Sladky, J. T.,
RefAuthors Swisher, W. P.
RefTitle X-linked dilated cardiomyopathy with neutropenia, growth
RefTitle retardation, and 3-methylglutaconic aciduria.
RefLoc J Pediatr 119:738-747 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 1608
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 459
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 57
Feature /change: R -> RARPRPSSPC PITSPAWTTL ISGGSX
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID H69Q(1a); standard; MUTATION;
Accession T0027
Systematic name g.1644C>G, c.207C>G, r.207c>g, p.His69Gln
Original code BS
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1644
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 495
Feature /codon: cac -> cag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 69
Feature /change: H -> Q
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0028 brother
Relative TAZbase; T0029 brother
//
ID H69Q(1b); standard; MUTATION;
Accession T0028
Systematic name g.1644C>G, c.207C>G, r.207c>g, p.His69Gln
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1644
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 495
Feature /codon: cac -> cag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 69
Feature /change: H -> Q
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0027 brother
Relative TAZbase; T0029 brother
//
ID H69Q(1c); standard; MUTATION;
Accession T0029
Systematic name g.1644C>G, c.207C>G, r.207c>g, p.His69Gln
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1644
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 495
Feature /codon: cac -> cag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 69
Feature /change: H -> Q
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0027 brother
Relative TAZbase; T0028 brother
//
ID G80E(1); standard; MUTATION;
Accession T0078
Systematic name g.2668G>A, c.239G>A, r.239g>a, p.Gly80Glu
Original code 910158
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16873891
RefAuthors van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K.,
RefAuthors Pitt, J. J.
RefTitle Monolysocardiolipin in cultured fibroblasts is a sensitive
RefTitle and specific marker for barth syndrome.
RefLoc J Lipid Res:2346-2351 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2668
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 527
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 80
Feature /change: G -> E
Diagnosis Barth syndrome
Symptoms Short stature, neutropenia, dilated cardiomyopathy
Age 0,4
Sex XY
//
ID R94C(1); standard; MUTATION;
Accession T0016
Systematic name g.2709C>T, c.280C>T, r.280c>u, p.Arg94Cys
Original code Family 7
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2709
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 568
Feature /codon: cgt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 94
Feature /change: R -> C
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID R94S(1); standard; MUTATION;
Accession T0048
Systematic name g.2709C>A, c.280C>A, r.280c>a, p.Arg94Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12032589
RefAuthors Sakamoto, O., Kitoh, T., Ohura, T., Ohya, N., Iinuma, K.
RefTitle Novel missense mutation (R94S) in the TAZ ( G4.5) gene in
RefTitle a japanese patient with barth syndrome.
RefLoc J Hum Genet 47:229-231 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2709
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 568
Feature /codon: cgt -> agt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 94
Feature /change: R -> S
Diagnosis Barth syndrome
Symptoms Cardiomyopathy with abnormal mitochondria, cyclic
Symptoms neutropenia, and 3-methylglutaconic aciduria (type 2)
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
//
ID C118R(1); standard; MUTATION;
Accession T0038
Systematic name g.3010T>C, c.352T>C, r.352u>c, p.Cys118Arg
Original code Family BSG, Patient I-3
Description A point mutation in the exon 4 leading to an amino acid
Description change
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 3010
Feature /change: t -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 640
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 118
Feature /change: C -> R
Diagnosis Barth syndrome
Symptoms Infantile dilated cardiomyopathy, 3-methylglutaconic
Symptoms aciduria, neutropenia, growth retardation, left
Symptoms ventricular noncompaction, congestive heart failure
Sex XY
Family history Inherited
//
ID R123X(1); standard; MUTATION;
Accession T0081
Systematic name g.3025C>T, c.367C>T, r.367c>u, p.Arg123X
Original code 910135
Description A point mutation in the exon 4 leading to a premature stop
Description codon
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16873891
RefAuthors van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K.,
RefAuthors Pitt, J. J.
RefTitle Monolysocardiolipin in cultured fibroblasts is a sensitive
RefTitle and specific marker for barth syndrome.
RefLoc J Lipid Res:2346-2351 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 3025
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 655
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 123
Feature /change: R -> X
Diagnosis Barth syndrome
Symptoms Failure to thrive, muscle weakness, dilated cardiomyopathy
Age 0,4
Sex XY
//
ID F178I(1a); standard; MUTATION; HYDRPHL
Accession T0030
Systematic name g.9077T>A, c.532T>A, r.532u>a, p.Phe178Ile
Original code FW
Description A point mutation in the exon 6 leading to an amino acid
Description change in the HYDRPHL domain
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9077
Feature /change: t -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 820
Feature /codon: ttc -> atc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 178
Feature /change: F -> I
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0031 brother
Comment Sequence was determined on the basis of the mother's DNA
//
ID F178I(1b); standard; MUTATION; HYDRPHL
Accession T0031
Systematic name g.9077T>A, c.532T>A, r.532u>a, p.Phe178Ile
Description A point mutation in the exon 6 leading to an amino acid
Description change in the HYDRPHL domain
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9077
Feature /change: t -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 820
Feature /codon: ttc -> atc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 178
Feature /change: F -> I
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0030 brother
Comment Sequence was determined on the basis of the mother's DNA
//
ID #P179X183(1); standard; MUTATION; HYDRPHL
Accession T0049
Systematic name g.9080delC, c.535delC, r.535delc, p.Pro179fsX5
Description A frame shift deletion mutation in the exon 6 leading to a
Description premature stop codon in the HYDRPHL domain
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12529714
RefAuthors Vesel, S., Stopar-Obreza, M., Trebusak-Podkrajsek, K.,
RefAuthors Jazbec, J., Podnar, T., Battelino, T.
RefTitle A novel mutation in the G4.5 (TAZ) gene in a kindred with
RefTitle barth syndrome.
RefLoc Eur J Hum Genet 11:97-101 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 9080
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 823
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 179
Feature /change: P -> QKGKX
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Symptoms Patient has only a mild and transitory clinical
Symptoms presentation of Barth syndrome
Sex XY
Family history Inherited
//
ID V183G(1); standard; MUTATION; HYDRPHL
Accession T0034
Systematic name g.9174T>G, c.548T>G, r.548u>g, p.Val183Gly
Original code Propand 2
Description A point mutation in the exon 7 leading to an amino acid
Description change in the HYDRPHL domain
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10484795
RefAuthors Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P.
RefAuthors W., Newbury-Ecob, R. A., Steward, C. G.
RefTitle Genetic analysis of the G4.5 gene in families with
RefTitle suspected barth syndrome.
RefLoc J Pediatr 135:311-315 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9174
Feature /change: t -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 836
Feature /codon: gtg -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 183
Feature /change: V -> G
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Comment Died aged 9 months (DCM)
//
ID E188X(1a); standard; MUTATION; HYDRPHL
Accession T0050
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 1
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, growth retardation,
Symptoms malformed mitochondria of heart, liver and muscle, and
Symptoms unusual fatty acid composition.
Sex XY
Family history Inherited
Relative TAZbase; T0051 brother
Relative TAZbase; T0052 cousin
Relative TAZbase; T0053 cousin
Relative TAZbase; T0054 cousin
Relative TAZbase; T0055 cousin
//
ID E188X(1b); standard; MUTATION; HYDRPHL
Accession T0051
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 2
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, malformed mitochondria of
Symptoms heart, liver and muscle, and unusual fatty acid
Symptoms composition.
Sex XY
Family history Inherited
Relative TAZbase; T0050 brother
Relative TAZbase; T0052 cousin
Relative TAZbase; T0053 cousin
Relative TAZbase; T0054 cousin
Relative TAZbase; T0055 cousin
//
ID E188X(1c); standard; MUTATION; HYDRPHL
Accession T0052
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 8
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms Patient appeared healthy until age 16 months, when he died
Symptoms after 1 week of an upper respiratory tract infection
Symptoms without fever or adema. At autopsy he had cardiomyopathy
Symptoms of unknown etiology
Sex XY
Family history Inherited
Relative TAZbase; T0050 cousin
Relative TAZbase; T0051 cousin
Relative TAZbase; T0053 brother
Relative TAZbase; T0054 brother
Relative TAZbase; T0055 cousin
//
ID E188X(1d); standard; MUTATION; HYDRPHL
Accession T0053
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 9
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, growth retardation,
Symptoms malformed mitochondria of heart, liver and muscle, and
Symptoms unusual fatty acid composition
Sex XY
Family history Inherited
Relative TAZbase; T0050 cousin
Relative TAZbase; T0051 cousin
Relative TAZbase; T0052 brother
Relative TAZbase; T0054 brother
Relative TAZbase; T0055 cousin
//
ID E188X(1e); standard; MUTATION; HYDRPHL
Accession T0054
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 10
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, malformed mitochondria of
Symptoms heart, liver and muscle, and unusual fatty acid
Symptoms composition
Sex XY
Family history Inherited
Relative TAZbase; T0050 cousin
Relative TAZbase; T0051 cousin
Relative TAZbase; T0052 brother
Relative TAZbase; T0053 brother
Relative TAZbase; T0055 cousin
Comment Patient died of DCM at age 23,5 months
//
ID E188X(1f); standard; MUTATION; HYDRPHL
Accession T0055
Systematic name g.9188G>T, c.562G>T, r.562g>u, p.Glu188X
Original code Kindred 1, Patient IV 10
Description A point mutation in the exon 7 leading to a premature stop
Description codon in the HYDRPHL domain
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9188
Feature /change: g -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 850
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 188
Feature /change: E -> X
Feature /domain: HYDRPHL
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy
Sex XY
Family history Inherited
Relative TAZbase; T0050 cousin
Relative TAZbase; T0051 cousin
Relative TAZbase; T0052 cousin
Relative TAZbase; T0053 cousin
Relative TAZbase; T0054 cousin
Comment Patient died 2 days after birth with hydrops fetalis
//
ID @W194X202(1a); standard; MUTATION; HYDRPHL
Accession T0007
Systematic name g.9206dupT, c.580dupT, r.580dupu, p.Trp194fsX9
Original code OAT
Description A frame shift duplication mutation in the exon 7 leading
Description to a premature stop codon in the HYDRPHL domain
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)RefNumber
RefNumber [2]
RefCrossRef PUBMED; 8434619
RefAuthors Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M.,
RefAuthors Partington, M. W., Mulley, J. C., Nelson, J., Lui, K.,
RefAuthors Sillence, D. O.
RefTitle Barth syndrome: clinical features and confirmation of
RefTitle gene localisation to distal xq28.
RefLoc Am J Med Genet 45:327-334 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 9207
Feature /change: +t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 194
Feature /change: W -> LGNRAPDCX
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0008 cousin
Relative TAZbase; T0009 cousin
//
ID @W194X202(1b); standard; MUTATION; HYDRPHL
Accession T0008
Systematic name g.9206dupT, c.580dupT, r.580dupu, p.Trp194fsX9
Original code 2542
Description A frame shift duplication mutation in the exon 7 leading
Description to a premature stop codon in the HYDRPHL domain
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)RefNumber
RefNumber [2]
RefCrossRef PUBMED; 8434619
RefAuthors Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M.,
RefAuthors Partington, M. W., Mulley, J. C., Nelson, J., Lui, K.,
RefAuthors Sillence, D. O.
RefTitle Barth syndrome: clinical features and confirmation of
RefTitle gene localisation to distal xq28.
RefLoc Am J Med Genet 45:327-334 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 9207
Feature /change: +t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 194
Feature /change: W -> LGNRAPDCX
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0007 cousin
Relative TAZbase; T0009 cousin
//
ID @W194X202(1c); standard; MUTATION; HYDRPHL
Accession T0009
Systematic name g.9206dupT, c.580dupT, r.580dupu, p.Trp194fsX9
Original code 2423
Description A frame shift duplication mutation in the exon 7 leading
Description to a premature stop codon in the HYDRPHL domain
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)RefNumber
RefNumber [2]
RefCrossRef PUBMED; 8434619
RefAuthors Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M.,
RefAuthors Partington, M. W., Mulley, J. C., Nelson, J., Lui, K.,
RefAuthors Sillence, D. O.
RefTitle Barth syndrome: clinical features and confirmation of
RefTitle gene localisation to distal xq28.
RefLoc Am J Med Genet 45:327-334 (1993)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 9207
Feature /change: +t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 194
Feature /change: W -> LGNRAPDCX
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0007 cousin
Relative TAZbase; T0008 cousin
//
ID @W194X202(2); standard; MUTATION; HYDRPHL
Accession T0079
Systematic name g.9206dupT, c.580dupT, r.580dupu, p.Trp194fsX9
Original code 910394
Description A frame shift duplication mutation in the exon 7 leading to
Description a premature stop codon in the HYDRPHL domain
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16873891
RefAuthors van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K.,
RefAuthors Pitt, J. J.
RefTitle Monolysocardiolipin in cultured fibroblasts is a sensitive
RefTitle and specific marker for barth syndrome.
RefLoc J Lipid Res:2346-2351 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 9207
Feature /change: +t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 869
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 194
Feature /change: W -> LGNRAPDCX
Feature /domain: HYDRPHL
Diagnosis Barth syndrome
Symptoms Short stature, neutropenia, muscle weakness, dilated
Symptoms cardiomyopathy
Age 1,3
Sex XY
//
ID G197E(1); standard; MUTATION;
Accession T0017
Systematic name g.9501G>A, c.590G>A, r.590g>a, p.Gly197Glu
Original code Family 8;[2]Pedigree 5
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 1719174
RefAuthors Kelley, R. I., Cheatham, J. P., Clark, B. J., Nigro, M.
RefAuthors A., Powell, B. R., Sherwood, G. W., Sladky, J. T.,
RefAuthors Swisher, W. P.
RefTitle X-linked dilated cardiomyopathy with neutropenia, growth
RefTitle retardation, and 3-methylglutaconic aciduria.
RefLoc J Pediatr 119:738-747 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9501
Feature /change: g -> a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 878
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> E
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID G197R(1); standard; MUTATION;
Accession T0018
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code Family 8;[2] Case 2
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8042670
RefAuthors Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G.,
RefAuthors Becker, L. E., Lehotay, D. C., Platt, B. A., Bridge, P.
RefAuthors J., Robinson, B. H., Clarke, J. T.
RefTitle Barth syndrome: clinical observations and genetic linkage
RefTitle studies.
RefLoc Am J Med Genet 50:255-264 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Barth syndrome
Sex XY
//
ID G197R(2); standard; MUTATION;
Accession T0032
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code MF
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 16-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382096
RefAuthors D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A.,
RefAuthors Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M.,
RefAuthors Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J.,
RefAuthors Zammarchi, E., Donati, M. A., Toniolo, D.
RefTitle The X-linked gene G4.5 is responsible for different
RefTitle infantile dilated cardiomyopathies.
RefLoc Am J Hum Genet 61:862-867 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Barth syndrome
Sex XY
//
ID G197R(3); standard; MUTATION;
Accession T0035
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code Propand 3
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10484795
RefAuthors Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P.
RefAuthors W., Newbury-Ecob, R. A., Steward, C. G.
RefTitle Genetic analysis of the G4.5 gene in families with
RefTitle suspected barth syndrome.
RefLoc J Pediatr 135:311-315 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Comment Cardiac transplant 11 months after presentation. Died aged
Comment 7 years (T-cell non-Hodgkin's lymphoma)
//
ID G197R(4); standard; MUTATION;
Accession T0036
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code Propand 4
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10484795
RefAuthors Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P.
RefAuthors W., Newbury-Ecob, R. A., Steward, C. G.
RefTitle Genetic analysis of the G4.5 gene in families with
RefTitle suspected barth syndrome.
RefLoc J Pediatr 135:311-315 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Comment Died aged 6 months (DCM)
//
ID G197R(5a); standard; MUTATION;
Accession T0058
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code III-2
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms Cardiomegaly, cardiac failure, cardiac thrombi,
Symptoms neutropenia, dilatation, hypertrophy, coarse
Symptoms trabeculation,endocardial fibroelastosis, abnormal
Symptoms myofibers
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0059 brother
Relative TAZbase; T0060 cousin
Relative TAZbase; T0061 cousin
Relative TAZbase; T0062 cousin
Relative TAZbase; T0063 cousin
Comment Patient died 21 days after birth
//
ID G197R(5b); standard; MUTATION;
Accession T0059
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code III-5
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms Cardiomegaly, cardiac failure, arrhytmias, neutropenia,
Symptoms muscle weakness, growth retardation, developmental delay,
Symptoms abnormal fetal echocardiogram, dilatation, coarse
Symptoms trabeculation, endocardial fibroelastosis, abnormal
Symptoms myofibers, abnormal mitochondria
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0058 brother
Relative TAZbase; T0060 cousin
Relative TAZbase; T0061 cousin
Relative TAZbase; T0062 cousin
Relative TAZbase; T0063 cousin
//
ID G197R(5c); standard; MUTATION;
Accession T0060
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code III-19
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms Cardiomegaly, cardiac failure, growth retardation,
Symptoms dilatation, hypertrophy, coarse trabeculation, endocardial
Symptoms fibroelastosis, abnormal myofibers
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0058 cousin
Relative TAZbase; T0059 cousin
Relative TAZbase; T0061 brother
Relative TAZbase; T0062 cousin
Relative TAZbase; T0063 cousin
Comment Patient died at age 3,5 months
//
ID G197R(5d); standard; MUTATION;
Accession T0061
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code III-21
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms Cardiomegaly, cardiac failure, arrhytmias, growth
Symptoms retardation, dilatation, hypertrophy, coarse
Symptoms trabeculation,endocardial fibroelastosis, abnormal
Symptoms myofibers
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0058 cousin
Relative TAZbase; T0059 cousin
Relative TAZbase; T0060 brother
Relative TAZbase; T0062 cousin
Relative TAZbase; T0063 cousin
Comment Patient died at age 5 weeks
//
ID G197R(5e); standard; MUTATION;
Accession T0062
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code IV-3
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms cardiomegaly, cardiac failure, arrhytmias, premature
Symptoms growth retardation, developmental delay, dilatation,
Symptoms hypertrophy, coarse trabeculation, endocardial
Symptoms fibroelastosis, abnormal myofibers
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0058 cousin
Relative TAZbase; T0059 cousin
Relative TAZbase; T0060 cousin
Relative TAZbase; T0061 cousin
Relative TAZbase; T0063 brother
Comment Patient died at age 7 months
//
ID G197R(5f); standard; MUTATION;
Accession T0063
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code IV-3
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9382097
RefAuthors Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C.,
RefAuthors Pysher, T. J., Chin, T. K., Ward, K.
RefTitle Neonatal, lethal noncompaction of the left ventricular
RefTitle myocardium is allelic with barth syndrome.
RefLoc Am J Hum Genet 61:868-872 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9332651
RefAuthors Bleyl, S. B., Mumford, B. R., Brown-Harrison, M. C.,
RefAuthors Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K.,
RefAuthors Chin, T. K.
RefTitle Xq28-linked noncompaction of the left ventricular
RefTitle myocardium: prenatal diagnosis and pathologic analysis of
RefTitle affected individuals.
RefLoc Am J Med Genet 72:257-265 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Isolated noncompaction of the left ventricular myocardium
Symptoms cardiomegaly, cardiac failure, growth retardation
Sex XY
Ethnic origin Caucasoid; Utah
Family history Inherited
Relative TAZbase; T0058 cousin
Relative TAZbase; T0059 cousin
Relative TAZbase; T0060 cousin
Relative TAZbase; T0061 cousin
Relative TAZbase; T0062 brother
Comment Alive at 8 months
//
ID G197R(6); standard; MUTATION;
Accession T0067
Systematic name g.9500G>A, c.589G>A, r.589g>a, p.Gly197Arg
Original code Patient 1
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16906470
RefAuthors Donati, M. A., Malvagia, S., Pasquini, E., Morrone, A., La
RefAuthors Marca, G., Garavaglia, B., Toniolo, D., Zammarchi, E.
RefTitle Barth syndrome presenting with acute metabolic
RefTitle decompensation in the neonatal period.
RefLoc J Inherit Metab Dis:684 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9500
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 877
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> R
Diagnosis Barth syndrome
Symptoms Poor feeding, lethargy, hypotonia, and hypothermia,
Symptoms cardiomegaly, hypoglycaemia, elevated transaminases, severe
Symptoms metabolic acidosis, elevated blood lactate, failure to
Symptoms thrive, mild motor delay, severe left ventricular dilated
Symptoms cardiomyopathy with hypokinesia
Age 3 d
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID G197V(1); standard; MUTATION;
Accession T0074
Systematic name g.9501G>T, c.590G>T, r.590g>u, p.Gly197Val
Original code P3
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14764526
RefAuthors Kuijpers, T. W., Maianski, N. A., Tool, A. T., Becker, K.,
RefAuthors Plecko, B., Valianpour, F., Wanders, R. J., Pereira, R.,
RefAuthors Van Hove, J., Verhoeven, A. J., Roos, D., Baas, F., Barth,
RefAuthors P. G.
RefTitle Neutrophils in barth syndrome (BTHS) avidly bind annexin-V
RefTitle in the absence of apoptosis.
RefLoc Blood:3915-3923 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9501
Feature /change: g -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 878
Feature /codon: ggg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 197
Feature /change: G -> V
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, skin infections, 3-Methyl
Symptoms glutaconic aciduria
Age 11
Sex XY
//
ID #E202X216(1); standard; MUTATION;
Accession T0084
Systematic name g.9516_9519delAGTG, c.605_608delAGTG, r.605_608delagug,
Systematic name p.Glu202fsX15
Original code patient
Description A frame shift deletion mutation in the exon 8 leading to a
Description premature stop codon
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17394203
RefAuthors Marziliano, N., Mannarino, S., Nespoli, L., Diegoli, M.,
RefAuthors Pasotti, M., Malattia, C., Grasso, M., Pilotto, A., Porcu,
RefAuthors E., Raisaro, A., Raineri, C., Dore, R., Maggio, P. P.,
RefAuthors Brega, A., Arbustini, E.
RefTitle Barth syndrome associated with compound hemizygosity and
RefTitle heterozygosity of the TAZ and LDB3 genes.
RefLoc Am J Med Genet A:907-915 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 9516..9519
Feature /change: -agtg
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 893..896
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 202..203
Feature /change: EC -> VISTPSSCPC GMSEX
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, neutropenia, skeletal myopathy,
Symptoms abnormal mitochondria and 3-methylglutaconic aciduria
Age 0,3
Sex XY
Family history Inherited
Comment Patient has also heteroxygous LDB3-mutation.
//
ID I209N(1); standard; MUTATION;
Accession T0019
Systematic name g.9537T>A, c.626T>A, r.626u>a, p.Ile209Asn
Original code Family 10
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9537
Feature /change: t -> a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 914
Feature /codon: atc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 209
Feature /change: I -> N
Diagnosis Barth syndrome
Sex XY
//
ID L210R(1); standard; MUTATION;
Accession T0037
Systematic name g.9540T>G, c.629T>G, r.629u>g, p.Leu210Arg
Original code Propand 5
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10484795
RefAuthors Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P.
RefAuthors W., Newbury-Ecob, R. A., Steward, C. G.
RefTitle Genetic analysis of the G4.5 gene in families with
RefTitle suspected barth syndrome.
RefLoc J Pediatr 135:311-315 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9540
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 917
Feature /codon: ctg -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 210
Feature /change: L -> R
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Comment Died aged 9 months (DCM)
//
ID #P211X217(1); standard; MUTATION;
Accession T0080
Systematic name g.9542delC, c.631delC, r.631delc, p.Leu212fsX6
Original code 0010379
Description A frame shift deletion mutation in the exon 8 leading to a
Description premature stop codon
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16873891
RefAuthors van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K.,
RefAuthors Pitt, J. J.
RefTitle Monolysocardiolipin in cultured fibroblasts is a sensitive
RefTitle and specific marker for barth syndrome.
RefLoc J Lipid Res:2346-2351 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 9542
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 919
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 211
Feature /change: P -> PCGMSEX
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, died at 6 weeks
Age 0
Sex XY
//
ID L212P(1); standard; MUTATION;
Accession T0020
Systematic name g.9546T>C, c.635T>C, r.635u>c, p.Leu212Pro
Original code Family 11
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9546
Feature /change: t -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 923
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 212
Feature /change: L -> P
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID G216R(1); standard; MUTATION;
Accession T0076
Systematic name g.9557G>A, c.646G>A, r.646g>a, p.Gly216Arg
Original code P6
Description A point mutation in the exon 8 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14764526
RefAuthors Kuijpers, T. W., Maianski, N. A., Tool, A. T., Becker, K.,
RefAuthors Plecko, B., Valianpour, F., Wanders, R. J., Pereira, R.,
RefAuthors Van Hove, J., Verhoeven, A. J., Roos, D., Baas, F., Barth,
RefAuthors P. G.
RefTitle Neutrophils in barth syndrome (BTHS) avidly bind annexin-V
RefTitle in the absence of apoptosis.
RefLoc Blood:3915-3923 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9557
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 934
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 216
Feature /change: G -> R
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, 3-Methyl glutaconic aciduria
Sex XY
//
ID #F228X238(1); standard; MUTATION;
Accession T0021
Systematic name g.9712delC, c.684delC, r.684delc, p.Arg230fsX9
Original code Family 12;[2]Case 1
Description A frame shift deletion mutation in the exon 9 leading to a
Description premature stop codon
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8042670
RefAuthors Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G.,
RefAuthors Becker, L. E., Lehotay, D. C., Platt, B. A., Bridge, P.
RefAuthors J., Robinson, B. H., Clarke, J. T.
RefTitle Barth syndrome: clinical observations and genetic linkage
RefTitle studies.
RefLoc Am J Med Genet 50:255-264 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0087: 9712
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 972
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 228
Feature /change: F -> FPALDRKSLC X
Diagnosis Barth syndrome
Sex XY
//
ID Q233X(1); standard; MUTATION;
Accession T0022
Systematic name g.9725C>T, c.697C>T, r.697c>u, p.Gln233X
Original code Family 13;[2]Pedigree 1
Description A point mutation in the exon 9 leading to a premature stop
Description codon
Date 13-Aug-2004 (Rel. 1, Created)
Date 13-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 1719174
RefAuthors Kelley, R. I., Cheatham, J. P., Clark, B. J., Nigro, M.
RefAuthors A., Powell, B. R., Sherwood, G. W., Sladky, J. T.,
RefAuthors Swisher, W. P.
RefTitle X-linked dilated cardiomyopathy with neutropenia, growth
RefTitle retardation, and 3-methylglutaconic aciduria.
RefLoc J Pediatr 119:738-747 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9725
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0087: 985
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 233
Feature /change: Q -> X
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID K234Q(1); standard; MUTATION;
Accession T0082
Systematic name g.10121A>C, c.700A>C, r.700a>c, p.Lys234Gln
Original code 0030008
Description A point mutation in the exon 10 leading to an amino acid
Description change
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16873891
RefAuthors van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K.,
RefAuthors Pitt, J. J.
RefTitle Monolysocardiolipin in cultured fibroblasts is a sensitive
RefTitle and specific marker for barth syndrome.
RefLoc J Lipid Res:2346-2351 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 10121
Feature /change: a -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087; GI:1263131; TAZC: 988
Feature /codon: aaa -> caa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 234
Feature /change: K -> Q
Diagnosis Barth syndrome
Symptoms Cardiomyopathy
Age <1
Sex XY
//
ID @I235X310(1a); standard; MUTATION;
Accession T0023
Systematic name g.10124dupA, c.703dupA, r.703dupa, p.Ile235fsX76
Original code Family 14, propand;[2]Case 5
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8042670
RefAuthors Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G.,
RefAuthors Becker, L. E., Lehotay, D. C., Platt, B. A., Bridge, P.
RefAuthors J., Robinson, B. H., Clarke, J. T.
RefTitle Barth syndrome: clinical observations and genetic linkage
RefTitle studies.
RefLoc Am J Med Genet 50:255-264 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 10125
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 992
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 235
Feature /change: I ->
Feature /change: NHCADREALQ CPACTRAAPG GEQVGCGDAE SPDGLHSRGI
Feature /change: PASEDSGRAA PQPPPAWEIG LACCLLDSWP AQSWGX
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0024 cousin
//
ID @I235X310(1b); standard; MUTATION;
Accession T0024
Systematic name g.10124dupA, c.703dupA, r.703dupa, p.Ile235fsX76
Original code Family 14, cousin;[2]Case 6
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8042670
RefAuthors Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G.,
RefAuthors Becker, L. E., Lehotay, D. C., Platt, B. A., Bridge, P.
RefAuthors J., Robinson, B. H., Clarke, J. T.
RefTitle Barth syndrome: clinical observations and genetic linkage
RefTitle studies.
RefLoc Am J Med Genet 50:255-264 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 10125
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 992
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 235
Feature /change: I ->
Feature /change: NHCADREALQ CPACTRAAPG GEQVGCGDAE SPDGLHSRGI
Feature /change: PASEDSGRAA PQPPPAWEIG LACCLLDSWP AQSWGX
Diagnosis Barth syndrome
Sex XY
Family history Inherited
Relative TAZbase; T0023 cousin
//
ID G240R(1a); standard; MUTATION;
Accession T0056
Systematic name g.10139G>A, c.718G>A, r.718g>a, p.Gly240Arg
Original code Kindred 2, Patient V 1
Description A point mutation in the exon 10 leading to an amino acid
Description change
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 10139
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 1006
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 240
Feature /change: G -> R
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, malformed mitochondria of
Symptoms heart, liver and muscle, and unusual fatty acid composition
Sex XY
Family history Inherited
Relative TAZbase; T0057 cousin
//
ID G240R(1b); standard; MUTATION;
Accession T0057
Systematic name g.10139G>A, c.718G>A, r.718g>a, p.Gly240Arg
Original code Kindred 2, Patient V 3
Description A point mutation in the exon 10 leading to an amino acid
Description change
Date 19-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11896212
RefAuthors Bissler, J. J., Tsoras, M., Goring, H. H., Hug, P.,
RefAuthors Chuck, G., Tombragel, E., McGraw, C., Schlotman, J.,
RefAuthors Ralston, M. A., Hug, G.
RefTitle Infantile dilated X-linked cardiomyopathy, G4.5
RefTitle mutations, altered lipids, and ultrastructural
RefTitle malformations of mitochondria in heart, liver, and
RefTitle skeletal muscle.
RefLoc Lab Invest 82:335-344 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 10139
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0087: 1006
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 240
Feature /change: G -> R
Diagnosis Dilated cardiomyopathy
Symptoms X-linked dilated cardiomyopathy, malformed mitochondria of
Symptoms heart, liver and muscle, and unusual fatty acid composition
Sex XY
Family history Inherited
Relative TAZbase; T0056 cousin
//
ID @G291X340(1a); standard; MUTATION;
Accession T0069
Systematic name g.10456_10460dup, c.868_872dup, r.868_872dup, p.Arg292fsX49
Original code 24-month-old boy
Description A frame shift duplication mutation in the exon 11 leading
Description to a premature stop codon
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17241629
RefAuthors Kirwin, S. M., Vinette, K. M., Schwartz, S. B., Funanage,
RefAuthors V. L., Gonzalez, I. L.
RefTitle Multiple transmissions of barth syndrome through an oocyte
RefTitle donor with a de novo TAZ mutation.
RefLoc Fertil Steril:976.e5-7 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 10461
Feature /change: +cctgg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 1161
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 291
Feature /change: G ->
Feature /change: GLGDRPCLLP SGFLARTELG LRDGLMLLAQ TWLLDRFVHR
Feature /change: PSQVPSPSWX
Diagnosis Barth syndrome
Sex XY
Relative TAZbase; T0070 brother
Relative TAZbase; T0071 half-brother (see Comment)
Comment The mutation is inherited from an oocyte donor
//
ID @G291X340(1b); standard; MUTATION;
Accession T0070
Systematic name g.10456_10460dup, c.868_872dup, r.868_872dup, p.Arg292fsX49
Description A frame shift duplication mutation in the exon 11 leading
Description to a premature stop codon
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17241629
RefAuthors Kirwin, S. M., Vinette, K. M., Schwartz, S. B., Funanage,
RefAuthors V. L., Gonzalez, I. L.
RefTitle Multiple transmissions of barth syndrome through an oocyte
RefTitle donor with a de novo TAZ mutation.
RefLoc Fertil Steril:976.e5-7 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 10461
Feature /change: +cctgg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 1161
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 291
Feature /change: G ->
Feature /change: GLGDRPCLLP SGFLARTELG LRDGLMLLAQ TWLLDRFVHR
Feature /change: PSQVPSPSWX
Diagnosis Barth syndrome
Sex XY
Relative TAZbase; T0069 brother
Relative TAZbase; T0071 half-brother (see Comment)
Comment The mutation is inherited from an oocyte donor
//
ID @G291X340(1c); standard; MUTATION;
Accession T0071
Systematic name g.10456_10460dup, c.868_872dup, r.868_872dup, p.Arg292fsX49
Description A frame shift duplication mutation in the exon 11 leading
Description to a premature stop codon
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17241629
RefAuthors Kirwin, S. M., Vinette, K. M., Schwartz, S. B., Funanage,
RefAuthors V. L., Gonzalez, I. L.
RefTitle Multiple transmissions of barth syndrome through an oocyte
RefTitle donor with a de novo TAZ mutation.
RefLoc Fertil Steril:976.e5-7 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0087: 10461
Feature /change: +cctgg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0087: 1161
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 291
Feature /change: G ->
Feature /change: GLGDRPCLLP SGFLARTELG LRDGLMLLAQ TWLLDRFVHR
Feature /change: PSQVPSPSWX
Diagnosis Barth syndrome
Sex XY
Relative TAZbase; T0069 half-brother (see Comment)
Relative TAZbase; T0070 half-brother (see Comment)
Comment The mutation is inherited from an oocyte donor
//
ID Intron 1(1); standard; MUTATION;
Accession T0011
Systematic name g.IVS1+5G>A, c.109+5G>A, r.109+5g>a,
Original code Family 2
Description A point mutation in the intron 1 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1418
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Family history De novo
//
ID Intron 1(2); standard; MUTATION;
Accession T0012
Systematic name g.IVS1+5G>C, c.109+5G>C, r.109+5g>c,
Original code Family 3;[2] Pedigree 2
Description A point mutation in the intron 1 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 1719174
RefAuthors Kelley, R. I., Cheatham, J. P., Clark, B. J., Nigro, M.
RefAuthors A., Powell, B. R., Sherwood, G. W., Sladky, J. T.,
RefAuthors Swisher, W. P.
RefTitle X-linked dilated cardiomyopathy with neutropenia, growth
RefTitle retardation, and 3-methylglutaconic aciduria.
RefLoc J Pediatr 119:738-747 (1991)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1418
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID Intron 1(3); standard; MUTATION;
Accession T0013
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family 4
Description A point mutation in the intron 1 leading to an amino acid
Description change
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID Intron 1(4a); standard; MUTATION;
Accession T0041
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-1
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy
Sex XY
Family history Inherited
Relative TAZbase; T0042; cousin
Relative TAZbase; T0043; cousin
Relative TAZbase; T0044; cousin
Relative TAZbase; T0045; cousin
Relative TAZbase; T0046; cousin
//
ID Intron 1(4b); standard; MUTATION;
Accession T0042
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-2
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Dilated cardiomyopathy, lactic acidosis
Sex XY
Family history Inherited
Relative TAZbase; T0041; cousin
Relative TAZbase; T0043; cousin
Relative TAZbase; T0044; cousin
Relative TAZbase; T0045; cousin
Relative TAZbase; T0046; cousin
//
ID Intron 1(4c); standard; MUTATION;
Accession T0043
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-3
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Protein C deficiency, neutropenia, congestive heart failure
Sex XY
Family history Inherited
Relative TAZbase; T0041; cousin
Relative TAZbase; T0042; cousin
Relative TAZbase; T0044; brother
Relative TAZbase; T0045; cousin
Relative TAZbase; T0046; cousin
//
ID Intron 1(4d); standard; MUTATION;
Accession T0044
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-4
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms 3-methylglutaconic aciduria, protein C deficiency,
Symptoms neutropenia, congestive heart failure
Sex XY
Family history Inherited
Relative TAZbase; T0041; cousin
Relative TAZbase; T0042; cousin
Relative TAZbase; T0043; brother
Relative TAZbase; T0045; cousin
Relative TAZbase; T0046; cousin
//
ID Intron 1(4e); standard; MUTATION;
Accession T0045
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-5
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Congestive heart failure
Sex XY
Family history Inherited
Relative TAZbase; T0041; cousin
Relative TAZbase; T0042; cousin
Relative TAZbase; T0043; cousin
Relative TAZbase; T0044; cousin
Relative TAZbase; T0046; cousin
//
ID Intron 1(4f); standard; MUTATION;
Accession T0046
Systematic name g.IVS1-2A>G, c.110-2A>G, r.110-2a>g,
Original code Family BSD, Patient III-7
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1545
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms 3-methylglutagonic aciduria, proximal muscle weakness,
Symptoms neutropenia, developmental delay, lactic acidosis,
Symptoms congestive heart failure
Sex XY
Family history Inherited
Relative TAZbase; T0041; cousin
Relative TAZbase; T0042; cousin
Relative TAZbase; T0043; cousin
Relative TAZbase; T0044; cousin
Relative TAZbase; T0045; cousin
//
ID Intron 1(5a); standard; MUTATION;
Accession T0086
Systematic name g.1414G>C, c.109+1G>C, r.109+1g>c
Original code III-2
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20303308
RefAuthors Chang, B., Momoi, N., Shan, L., Mitomo, M., Aoyagi, Y.,
RefAuthors Endo, K., Takeda, I., Chen, R., Xing, Y., Yu, X.,
RefAuthors Watanabe, S., Yoshida, T., Kanegane, H., Tsubata, S.,
RefAuthors Bowles, N. E., Ichida, F., Miyawaki, T., Abe, T., Akagi,
RefAuthors T., Arita, Y., Doi, H., Futaba, S., Fukuda, Y., Fukushima,
RefAuthors N., Furutani, M., Hamada, H., Hamaoka, A., Haneda, N.,
RefAuthors Hayakawa, T., Hayashi, T., Higaki, T., Hioka, T., Hiraumi,
RefAuthors Y., Horigome, H., Igarashi, T., Matsumori, T., Inamura,
RefAuthors N., Ikemoto, Y., Ishida, T., Ishihara, A., Ishikawa, S.,
RefAuthors Ishikawa, T., Isobe, T., Iwashima, S., Katayama, H.,
RefAuthors Kaichi, S., Kajino, H., Kawano, K., Koda, K., Kondo, T.,
RefAuthors Koyama, K., Kubo, T., Kudo, M., Kurotobi, S., Kuwabara,
RefAuthors A., Sekiguchi, K., Makita, N., Matsushita, T., Matsuoka,
RefAuthors T., Matsuoka, R., Matsuura, H., Mito, H., Mitomori, T.,
RefAuthors Miura, M., Miyake, T., Mori, K., Morikami, Y., Murakami,
RefAuthors Y., Nakagawa, M., Nakamura, K., Nakayama, T., Nii, M.,
RefAuthors Nihei, K., Nomura, Y., Ohata, J., Okada, Y., Ono, S.,
RefAuthors Ooki, H., Sakai, N., Sakamoto, S., Saito, K., Sekiguchi,
RefAuthors K., Shiraishi, H., Sugiyama, H., Suzuki, S., Takagi, K.,
RefAuthors Takeda, M., Takenaka, S., Tamura, M., Tanabe, M., Tanaka,
RefAuthors Y., Taniguchi, H., Terai, M., Terano, K., Tokuyama, M.,
RefAuthors Tomita, H., Tsuji, T., Tsukashita, M., Tsumori, T.,
RefAuthors Urashima, T., Wakabayashi, Y., Yamamoto, M., Yasuda, K.,
RefAuthors Yoshimoto, J., Yoshibayashi, M., Yoshizawa, H.
RefTitle Gonadal mosaicism of a TAZ (G4.5) mutation in a japanese
RefTitle family with barth syndrome and left ventricular
RefTitle noncompaction.
RefLoc Mol Genet Metab:198-203 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1414
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Severe heart failure; Neutropenia; Growth retardation;
Age 4 mo
Sex XY
Relative TAZbase; T0087; brother
Comment Patient died of intractable heart failure at the age
Comment of 12 months.
//
ID Intron 1(5b); standard; MUTATION;
Accession T0087
Systematic name g.1414G>C, c.109+1G>C, r.109+1g>c
Original code III-3
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20303308
RefAuthors Chang, B., Momoi, N., Shan, L., Mitomo, M., Aoyagi, Y.,
RefAuthors Endo, K., Takeda, I., Chen, R., Xing, Y., Yu, X.,
RefAuthors Watanabe, S., Yoshida, T., Kanegane, H., Tsubata, S.,
RefAuthors Bowles, N. E., Ichida, F., Miyawaki, T., Abe, T., Akagi,
RefAuthors T., Arita, Y., Doi, H., Futaba, S., Fukuda, Y., Fukushima,
RefAuthors N., Furutani, M., Hamada, H., Hamaoka, A., Haneda, N.,
RefAuthors Hayakawa, T., Hayashi, T., Higaki, T., Hioka, T., Hiraumi,
RefAuthors Y., Horigome, H., Igarashi, T., Matsumori, T., Inamura,
RefAuthors N., Ikemoto, Y., Ishida, T., Ishihara, A., Ishikawa, S.,
RefAuthors Ishikawa, T., Isobe, T., Iwashima, S., Katayama, H.,
RefAuthors Kaichi, S., Kajino, H., Kawano, K., Koda, K., Kondo, T.,
RefAuthors Koyama, K., Kubo, T., Kudo, M., Kurotobi, S., Kuwabara,
RefAuthors A., Sekiguchi, K., Makita, N., Matsushita, T., Matsuoka,
RefAuthors T., Matsuoka, R., Matsuura, H., Mito, H., Mitomori, T.,
RefAuthors Miura, M., Miyake, T., Mori, K., Morikami, Y., Murakami,
RefAuthors Y., Nakagawa, M., Nakamura, K., Nakayama, T., Nii, M.,
RefAuthors Nihei, K., Nomura, Y., Ohata, J., Okada, Y., Ono, S.,
RefAuthors Ooki, H., Sakai, N., Sakamoto, S., Saito, K., Sekiguchi,
RefAuthors K., Shiraishi, H., Sugiyama, H., Suzuki, S., Takagi, K.,
RefAuthors Takeda, M., Takenaka, S., Tamura, M., Tanabe, M., Tanaka,
RefAuthors Y., Taniguchi, H., Terai, M., Terano, K., Tokuyama, M.,
RefAuthors Tomita, H., Tsuji, T., Tsukashita, M., Tsumori, T.,
RefAuthors Urashima, T., Wakabayashi, Y., Yamamoto, M., Yasuda, K.,
RefAuthors Yoshimoto, J., Yoshibayashi, M., Yoshizawa, H.
RefTitle Gonadal mosaicism of a TAZ (G4.5) mutation in a japanese
RefTitle family with barth syndrome and left ventricular
RefTitle noncompaction.
RefLoc Mol Genet Metab:198-203 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1414
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Depressed left ventricular systolic function; Mitral
Symptoms regurgitation; Neutropenia; Growth retardation;
Sex XY
Relative TAZbase; T0086; brother
//
ID Intron 2(1); standard; MUTATION;
Accession T0004
Systematic name g.IVS2-1G>C, c.239-1G>C, r.239-1g>c,
Original code K
Description A point mutation in the intron 2 leading to aberrant
Description splicing
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2667
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
//
ID Intron 2(2a); standard; MUTATION;
Accession T0005
Systematic name g.IVS2-1G>A, c.239-1G>A, r.239-1g>a,
Original code GW
Description A point mutation in the intron 2 leading to aberrant
Description splicing
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2667
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0006; nephew
//
ID Intron 2(2b); standard; MUTATION;
Accession T0006
Systematic name g.IVS2-1G>A, c.239-1G>A, r.239-1g>a,
Original code 2880
Description A point mutation in the intron 2 leading to aberrant
Description splicing
Date 12-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8630491
RefAuthors Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K.,
RefAuthors Bolhuis, P. A., Toniolo, D.
RefTitle A novel X-linked gene, G4.5. is responsible for barth
RefTitle syndrome.
RefLoc Nat Genet 12:385-389 (1996)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2667
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Ethnic origin Caucasoid
Family history Inherited
Relative TAZbase; T0005; uncle
//
ID Intron 2(3); standard; MUTATION;
Accession T0015
Systematic name g.IVS2+2T>G, c.238+2T>G, r.238+2u>g,
Original code Family 6; [2]Case 4
Description A point mutation in the intron 2 leading to aberrant
Description splicing
Date 13-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9345098
RefAuthors Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F.,
RefAuthors Iyer, G. S., Funanage, V. L., Proujansky, R.
RefTitle Mutation characterization and genotype-phenotype
RefTitle correlation in barth syndrome.
RefLoc Am J Hum Genet 61:1053-1058 (1997)
RefNumber [2]
RefCrossRef PUBMED; 8042670
RefAuthors Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G.,
RefAuthors Becker, L. E., Lehotay, D. C., Platt, B. A., Bridge, P.
RefAuthors J., Robinson, B. H., Clarke, J. T.
RefTitle Barth syndrome: clinical observations and genetic linkage
RefTitle studies.
RefLoc Am J Med Genet 50:255-264 (1994)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 1677
Feature /change: t -> g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Sex XY
Family history Inherited
//
ID Intron 3(1); standard; MUTATION;
Accession T0047
Systematic name g.IVS3+110G>A, c.284+110G>A, r.284+110g>a,
Description A point mutation in the intron 3 leading to aberrant
Description splicing
Date 18-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11735032
RefAuthors Sakamoto, O., Ohura, T., Katsushima, Y., Fujiwara, I.,
RefAuthors Ogawa, E., Miyabayashi, S., Iinuma, K.
RefTitle A novel intronic mutation of the TAZ ( G4.5) gene in a
RefTitle patient with barth syndrome: creation of a 5' splice
RefTitle donor site with variant GC consensus and elongation of
RefTitle the upstream exon.
RefLoc Hum Genet 109:559-563 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 2823
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: insertion; frameshift
Feature /change: +gtgaggagga atgggcccct cgaagtgggc cgggccggcc
Feature /change: ccacctgcct ctgcccagat ttgccctcct cctgctctgc
Feature /change: ccaggaggtg gcgtccagca gtccag
Feature /loc: IDRefSeq: C0087: 573
Feature /inexloc: +110
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q16635; TAZ_HUMAN: 95
Feature /change: W -> WX
Diagnosis Barth syndrome
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Comment Is spite of regular follow-up and treatment for cardiac
Comment failure patient died suddenly at age of 10.
//
ID Intron 6(1); standard; MUTATION;
Accession T0068
Systematic name g.IVS6+1G>A, c.541+1G>A, r.541+1g>a
Original code Patient 2
Description A point mutation in the intron 6 leading to an amino acid
Description change
Date 03-May-2007 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16906470
RefAuthors Donati, M. A., Malvagia, S., Pasquini, E., Morrone, A., La
RefAuthors Marca, G., Garavaglia, B., Toniolo, D., Zammarchi, E.
RefTitle Barth syndrome presenting with acute metabolic
RefTitle decompensation in the neonatal period.
RefLoc J Inherit Metab Dis:684 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9087
Feature /change: g -> a
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Poor sucking, hypotonia, and hypothermia, hypoglycaemia
Symptoms with normal serum ketone bodies, mild hyperammonaemia,
Symptoms elevated lactate, and metabolic acidosis, generalized
Symptoms muscular weakness, motor retardation, and diminished
Symptoms growth, neutropenia, respiratory disstress, tachycardia and
Symptoms oedema, grossly dilated left ventricle with a severely
Symptoms reduced ventricular ejection fraction
Age 12 h
Sex XY
Ethnic origin Caucasoid; Italy
//
ID Intron 8(1a); standard; MUTATION;
Accession T0064
Systematic name g.IVS8-1G>C, c.647-1G>C, r.647-1g>c,
Original code IV:1
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12468278
RefAuthors Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X.,
RefAuthors Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y.,
RefAuthors Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin,
RefAuthors J. A.
RefTitle Mutation analysis of the G4.5 gene in patients with
RefTitle isolated left ventricular noncompaction.
RefLoc Mol Genet Metab 77:319-325 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9674
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion
Feature /change: -gaatgaatga cgtccttcct aacagtccgc cctacttccc
Feature /change: ccgctttgga cag
Feature /note: skipping of exon 9
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Isolated noncompaction of the left ventricular myocardium
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative TAZbase; T0065;
//
ID Intron 8(1b); standard; MUTATION;
Accession T0065
Systematic name g.IVS8-1G>C, c.647-1G>C, r.647-1g>c,
Original code III-9
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 20-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12468278
RefAuthors Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X.,
RefAuthors Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y.,
RefAuthors Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin,
RefAuthors J. A.
RefTitle Mutation analysis of the G4.5 gene in patients with
RefTitle isolated left ventricular noncompaction.
RefLoc Mol Genet Metab 77:319-325 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 9674
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion
Feature /change: -gaatgaatga cgtccttcct aacagtccgc cctacttccc
Feature /change: ccgctttgga cag
Feature /note: skipping of exon 9
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Isolated noncompaction of the left ventricular myocardium
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative TAZbase; T0064;
//
ID Intron 10(1); standard; MUTATION;
Accession T0039
Systematic name g.IVS10+2T>A, c.777+2T>A, r.777+2u>a,
Original code Family BSL, Patient II-1
Description A point mutation in the intron 10 leading to aberrant
Description splicing
Date 17-Aug-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11238270
RefAuthors Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese,
RefAuthors K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H.,
RefAuthors Bowles, N. E., Towbin, J. A.
RefTitle Novel gene mutations in patients with left ventricular
RefTitle noncompaction or barth syndrome.
RefLoc Circulation 103:1256-1263 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 10200
Feature /change: t -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms 3-methylglutaconic aciduria, neutropenia, left ventricular
Symptoms noncompaction, sudden cardiac death
Sex XY
Ethnic origin Mongoloid; Vietnam
Family history Inherited
//
ID Intron 10(2); standard; MUTATION;
Accession T0072
Systematic name g.IVS10+2T>A, c.777+2T>A, r.777+2u>a
Original code patient
Description A point mutation in the intron 10 leading to an amino acid
Description change
Date 30-May-2008 (Rel. 1, Created)
Date 30-May-2008 (Rel. 1, Last updated, Version 1)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0087: 10200
Feature /change: t -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Barth syndrome
Symptoms Heart failure, left ventricular noncompaction, neutropenia,
Symptoms 3-methylglutaconic acid uria
Sex XY
Comment Died in early infancy of overwhelming sepsis and heart
Comment failure.
//
//
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