A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
Journal of Korean Medical Science
; : 784-787, 2013.
Article
em En
| WPRIM
| ID: wpr-80566
Biblioteca responsável:
WPRO
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.
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Assunto principal:
Linhagem
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Fatores de Transcrição
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Acidose
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Tomografia Computadorizada por Raios X
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Doença Aguda
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Mutação da Fase de Leitura
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Análise de Sequência de DNA
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Meios de Contraste
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Síndrome de Barth
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Insuficiência Cardíaca
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2013
Tipo de documento:
Article