Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.
10.4250/jcu.2016.24.2.153
- Author:
Tae Yeon YOO
1
;
Mock Ryeon KIM
;
Jae Sung SON
;
Ran LEE
;
Sun Hwan BAE
;
Sochung CHUNG
;
Kyo Sun KIM
;
Moon Woo SEONG
;
Sung Sup PARK
Author Information
1. Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea. drsonped@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
Barth syndrome;
Cardiomyopathy;
Growth delay;
Neutropenia;
Tafazzin
- MeSH:
Barth Syndrome*;
Cardiolipins;
Cardiomyopathies;
Failure to Thrive;
Humans;
Infant;
Korea;
Male;
Muscular Diseases;
Neutropenia
- From:Journal of Cardiovascular Ultrasound
2016;24(2):153-157
- CountryRepublic of Korea
- Language:English
-
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.
