GM23986

GM23986 LCL from B-Lymphocyte

Description:

BARTH SYNDROME; BTHS
TAFAZZIN; TAZ

Affected:

Yes

Sex:

Male

Age:

2 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

White

Ethnicity

Not Hispanic/Latino

Ethnicity

German-Irish

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; shortness of breath; tachypnea; tachycardia; cyanosis; microcephaly (HC=37cm, < 3rd percentile); short stature; height 57cm (3rd percentile); weight 3.89 kg (10-25th percentile); no craniofacial dysmorphic features or other notable organomegaly; significant cardiomegaly; dilated left ventricle with ejection fraction of only 10%; severe systolic dysfunction of the dilated left ventricle; moderate dilation of left atrium; moderate insufficiency of mitral valve; mild tricuspid valve insufficiency at high velocity; pulmonary hypertension; elevated acetylcarnitinine levels (35.014 umol/L, normal 1.62-16.06); levocarnitine supplementation accounted for low plasma amino acids; reduced protein intake; low white blood cell count (3.3K/UL, normal 4.9-17.8); mild neutropenia (15.4%, normal 17-65% of WBC); B-type natriuretic peptide was than 5000 (normal <100 pg/mL); Troponin I and high sensitivity CRP found very high; mutation analysis: missense mutation 553A>G(Met185Val) in exon7 of the TAZ (tafazzin) gene located on Xq28; successful heart transplant; maternal uncle died at two years of age with similiar symptoms; maternal aunt died at 2 months of age from complications following right ventricle-to-pulmonary artery shunt with atrial septectomy on cardiopulmonary bypass; family studies reveal mother, maternal aunt, and grandmother carry same missense mutation.