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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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1
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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 |
Q233X; BARTH SYNDROME |
| Identified Mutation |
GLN233TER |
| Remarks |
Clinically affected; affected half-brother died at age 7 months; carrier half-sister with a deceased affected son; at birth: weight to height ratio was 2.8/49; multiple infections; cholesterol at >1 year of age was 40 mg/dl; onset of dilated cardiomyopathy at birth; carnitine levels at 40/46 (free/total); 3-methylglutaconate in plasma is 496 nmol/l; donor subject is hemizygous for a C>T change in exon 9 of the TAZ (G4.5) gene [c.697C>T] resulting in a stop at codon 233 [Gln233Ter (Q233X)]; |
| 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 |
| |
| Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP, X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria The Journal of pediatrics119:738-47 1991 |
| PubMed ID: 1719174 |
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