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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EASTERN EUROPEAN
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Family History
|
N
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Relation to Proband
|
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 |
H69Q; BARTH SYNDROME |
| Identified Mutation |
HIS69GLN |
| Remarks |
Clinically affected; two deceased affected brothers; dilated cardiomyopathy with cardiac transplant at age 4 months; 3-methyglutaconic aciduria; growth retardation; donor subject is hemizygous for a C>G change in exon 2 of the TAZ (G4.5) gene (c.207C>G) resulting in the substitution of glutamine for histidine at codon 69 [His69Gln (H69Q)] |
| D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D, The X-linked gene G45 is responsible for different infantile dilated cardiomyopathies American journal of human genetics61:862-7 1997 |
| PubMed ID: 9382096 |
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