一例Ⅱ型Waardenburg综合征的基因突变分析
China journal of Leprosy and Skin Diseases(2023)
Abstract
目的:报道一例表现为面部多发色素沉着伴色素脱失斑点、蓝色虹膜、先天性耳聋的Ⅱ型Waardenburg综合征,并明确其致病基因突变.方法:收集患者及其父母临床资料和外周血,提取其外周血基因组DNA,并利用遗传性皮肤病目标基因外显子测序技术筛查可疑致病基因,经生物信息学分析明确致病突变,进一步针对该突变进行共分离验证以明确诊断.结果:该患者的MITF基因存在 c.649_651delAGA(p.R217del)杂合突变,而在其亲生父母的外周血DNA中均未检出,提示该突变为患者新发突变,根据ACMG指南,可判断该突变为致病性突变.结论:MITF基因的c.649_651delAGA(p.R217del)杂合突变是导致此例患者Ⅱ型Waardenburg综合征的原因.
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Key words
Waardenburg syndrome,MITF,blue iris
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