GM22164

GM22164 LCL from B-Lymphocyte

Description:

BARTH SYNDROME; BTHS
TAFAZZIN; TAZ

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Black/African American

Ethnicity

AFRICAN-AMERICAN

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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)];

Characterizations

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

Phenotypic Data

Remarks

Publications

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