title: 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.
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Tae Yeon
authors.initials: TY
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Mock Ryeon
authors.initials: MR
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Son
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Ran
authors.initials: R
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Sun Hwan
authors.initials: SH
authors.lastname: Bae
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Sochung
authors.initials: S
authors.lastname: Chung
authors.affiliation: Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
authors.forename: Kyo Sun
authors.initials: KS
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
keywords: Barth syndrome; Cardiomyopathy; Growth delay; Neutropenia; Tafazzin