Key result
Novel de novo TAZ mutation marks first reported Barth syndrome case in Korea.
Case Report (n=1)
This report expands the knowledge on the mutation spectrum of the TAZ gene in Barth syndrome by identifying the first de novo mutation in a Korean patient.
Expands TAZ mutation spectrum in Barth syndrome; extends database but leaves broader applicability open.
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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Yoo et al. (2016) conducted a case report in Barth syndrome (n=1). Novel de novo mutation in the TAZ gene was evaluated on Identification of a novel de novo mutation in the TAZ gene. A novel de novo mutation in the TAZ gene was identified in a 13-month-old Korean boy with Barth syndrome, representing the first reported case of its kind in Korea.
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