A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
Journal of Korean Medical Science
;
: 784-787, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-80566
ABSTRACT
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Factores de Transcripción
/
Acidosis
/
Tomografía Computarizada por Rayos X
/
Enfermedad Aguda
/
Mutación del Sistema de Lectura
/
Análisis de Secuencia de ADN
/
Medios de Contraste
/
Síndrome de Barth
/
Insuficiencia Cardíaca
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2013
Tipo del documento:
Artículo
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