Mar 14, 2012

Barth syndrome in a female patient

Molecular Genetics and Metabolism
Laure CossonFrançois Labarthe

Abstract

Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochondrial membrane results in respiratory chain dysfunction. No specific symptom has been identified in female carriers. We report the first case of BTHS confirmed by TAZ gene analysis in a female patient. This girl experienced severe heart failure at 1-month of age. Echocardiography diagnosed dilated-hypokinetic and hypertrophic cardiomyopathy with noncompaction of the left ventricle. Initial metabolic screening was normal, except for a cyclic neutropenia. Respiratory chain analysis performed on skin fibroblasts revealed a decreased activity of complexes I, III and IV. Screening on a bloodspot showed abnormal monolysocardiolipin:cardiolipin ratio, later confirmed on cultured fibroblasts, indicative of BTHS. Genetic analyses finally confirmed the diagnosis of BTHS, by showing a large intragenic deletion of exons 1 through 5 in the TAZ gene. Cytogenetic analysis showed mosaicism for monosomy X and for a ring X chromosome with a l...Continue Reading

  • References16
  • Citations18

References

  • References16
  • Citations18

Citations

Mentioned in this Paper

Metabolic Process, Cellular
Organic acids, Gynecological
Specimen Type - Fibroblasts
Neutropenia
Exons
Xq28
Chromosomes, Human, X
Hypokinesia
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Left Ventricular Structure

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