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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Ethnicity
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FRENCH/GERMAN/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 |
G58AfsX25; BARTH SYNDROME |
| Identified Mutation |
171delA |
| Remarks |
Clinically affected; no family history; at birth: weight to height ratio was 3.1; occassional infection; cholesterol at >1 year of age was 61 mg/dl; onset of dilated cardiomyopathy at age 3 months; perinatal hypoglycemia; skeletal muscle weakness; total carnitine level at 10; (3-methylglutaconate in plasma is 2505 nmol/l and in urine is 70; donor subject is hemizygous for a 1 bp deletion (171delA) in exon 2 of the TAZ (G4.5) gene resulting in a frameshift after amino acid 57 [Gly58AlafsX25] |
| Chan JZ, Fernandes MF, Steckel KE, Bradley RM, Hashemi A, Groh MR, Sciaini G, Stark KD, Duncan RE, N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics Scientific reports12:9466 2021 |
| PubMed ID: 35676289 |
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| 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 |
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| 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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