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J. Korean Med. Sci. · May 2013
Case ReportsA novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
- Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh, Moon-Woo Seong, and Sung Sup Park.
- Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
- J. Korean Med. Sci. 2013 May 1; 28 (5): 784-7.
AbstractA 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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