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KMID : 0390620160240020153
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Journal of Cardiovascular Ultrasound
2016 Volume.24 No. 2 p.153 ~ p.157
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Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
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Yoo Tae-Yeon
Son Jae-Sung
Lee Ran
Bae Sun-Hwan
Chung So-Chung
Kim Kyo-Sun
Seong Moon-Woo
Park Sung-Sup
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Abstract
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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.
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KEYWORD
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Barth syndrome , Cardiomyopathy , Growth delay , Neutropenia , Tafazzin
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