Description:
BARTH SYNDROME; BTHS
TAFAZZIN; TAZ
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ITALIAN/IRISH/ENGLISH
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
TAZ |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; BARTH SYNDROME |
| Identified Mutation |
IVS1+5G>A |
| Remarks |
Clinically affected; no family history; onset of dilated cardiomyopathy at birth; neutropenia; growth retardation; skeletal muscle weakness; several infections; cholesterol at >1 year of age was 95 mg/dl (LDL 41); normal carnitine; 3-methylglutaconate in plasma is 2594 nmol/l and in urine is 106; muscle biopsy showed abnormal mitochondria; donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>A |
| Gonzalez IL, Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A134(4):409-14 2005 |
| PubMed ID: 15793838 |
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| Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ, Phospholipid abnormalities in children with Barth syndrome Journal of the American College of Cardiology42:1994-9 2003 |
| PubMed ID: 14662265 |
| |
| Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R, Mutation characterization and genotype-phenotype correlation in Barth syndrome American journal of human genetics61:1053-8 1997 |
| PubMed ID: 9345098 |
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