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.
Artículo
en Inglés
| WPRIM
| ID: wpr-11226
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cardiolipinas
/
Insuficiencia de Crecimiento
/
Síndrome de Barth
/
Corea (Geográfico)
/
Enfermedades Musculares
/
Cardiomiopatías
/
Neutropenia
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Cardiovascular Ultrasound
Año:
2016
Tipo del documento:
Artículo
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