Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
Journal of Cardiovascular Ultrasound
; : 153-157, 2016.
Article
em En
| WPRIM
| ID: wpr-11226
Biblioteca responsável:
WPRO
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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Cardiolipinas
/
Insuficiência de Crescimento
/
Síndrome de Barth
/
Coreia (Geográfico)
/
Doenças Musculares
/
Cardiomiopatias
/
Neutropenia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Cardiovascular Ultrasound
Ano de publicação:
2016
Tipo de documento:
Article