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
in En
| WPRIM
| ID: wpr-11226
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Cardiolipins
/
Failure to Thrive
/
Barth Syndrome
/
Korea
/
Muscular Diseases
/
Cardiomyopathies
/
Neutropenia
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Cardiovascular Ultrasound
Year:
2016
Type:
Article