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首页> 外文期刊>Journal of Korean medical science >A novel mutation of the TAZ gene in barth syndrome: Aacute exacerbation after contrast-dye injection
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A novel mutation of the TAZ gene in barth syndrome: Aacute exacerbation after contrast-dye injection

机译：Barth综合征中TAZ基因的新突变：注射造影剂后急性加重

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摘要

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.
机译：一个14个月大的男孩因左心室扩张和肥大，中性粒细胞减少和发育迟缓而被转移。在用造影剂检查了计算机断层血管造影后，该患者表现出急性加重，尽管进行了精心护理，但最终死于多器官功能衰竭。通过遗传分析，我们发现该患者患有Barth综合征，并在其母亲的TAZ基因c.227delC（p.Pro76LeufsX7）中发现了一个新型的半合子移码突变。本文中，我们报道了一位Barth综合征患者，该患者在TAZ基因中发生了新的突变，并在造影剂注入计算机X线断层血管造影后经历了意外的急性加重。

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