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Costello综合征HRAS基因突变研究

Wen QIN,Zhe XU,Zhi-miao LIN,Hui-jun WANG

Journal of Clinical Dermatology（2020）

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Abstract
目的:报告1例Costello综合征及其临床特点,确定其基因突变情况.方法:收集患者临床资料,抽取先证者及其家庭成员外周血,提取基因组DNA,对先证者DNA进行全外显子组测序,经数据过滤确定候选基因后进行Sanger测序验证.结果:先证者HRAS基因的2号外显子存在新发杂合突变c.34G＞A,导致其编码的氨基酸发生错义突变(p.Gly12Ser),父母均不携带此突变.结论:患者确诊为Costello综合征,HRAS基因的c.34G＞A杂合突变可能是导致患者出现临床症状的致病原因.
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