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Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.

ABSTRACT: Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.

SUBMITTER: Yoo TY

PROVIDER: S-EPMC4925393 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.

Yoo Tae Yeon TY Kim Mock Ryeon MR Son Jae Sung JS Lee Ran R Bae Sun Hwan SH Chung Sochung S Kim Kyo Sun KS Seong Moon-Woo MW Park Sung Sup SS

Journal of cardiovascular ultrasound 20160622 2

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de nov ...[more]

PMID: 27358708

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