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A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
Article in En | WPRIM | ID: wpr-80566
Responsible library: 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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Full text: 1 Index: WPRIM Main subject: Pedigree / Transcription Factors / Acidosis / Tomography, X-Ray Computed / Acute Disease / Frameshift Mutation / Sequence Analysis, DNA / Contrast Media / Barth Syndrome / Heart Failure Limits: Adolescent / Humans / Male Language: En Journal: Journal of Korean Medical Science Year: 2013 Type: Article
Full text: 1 Index: WPRIM Main subject: Pedigree / Transcription Factors / Acidosis / Tomography, X-Ray Computed / Acute Disease / Frameshift Mutation / Sequence Analysis, DNA / Contrast Media / Barth Syndrome / Heart Failure Limits: Adolescent / Humans / Male Language: En Journal: Journal of Korean Medical Science Year: 2013 Type: Article