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A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
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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Texto completo: 1 Índice: WPRIM Assunto principal: Linhagem / Fatores de Transcrição / Acidose / Tomografia Computadorizada por Raios X / Doença Aguda / Mutação da Fase de Leitura / Análise de Sequência de DNA / Meios de Contraste / Síndrome de Barth / Insuficiência Cardíaca Limite: Adolescent / Humans / Male Idioma: En Revista: Journal of Korean Medical Science Ano de publicação: 2013 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Linhagem / Fatores de Transcrição / Acidose / Tomografia Computadorizada por Raios X / Doença Aguda / Mutação da Fase de Leitura / Análise de Sequência de DNA / Meios de Contraste / Síndrome de Barth / Insuficiência Cardíaca Limite: Adolescent / Humans / Male Idioma: En Revista: Journal of Korean Medical Science Ano de publicação: 2013 Tipo de documento: Article