SOX10点突变致Waardenburg综合征2型一家系分析  

SOX10 Gene Mutation in a Family withWaardenburg Syndrome Type 2

作　　者：刘薇[1] 于永波[1] 陈敏[1] 李蓓[1] 张杰[1] LIU Wei;YU Yongbo;CHEN Min;LI Bei;ZHANG Jie(National Center for Children’s Health,Beijing Children’s Hospital,Department of Otolaryngology Head and Neck Surgery,Beijing Key Laboratory for Pediatric Diseases of Otolaryngology,Beijing 100045)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院耳鼻咽喉头颈外科,儿童耳鼻咽喉头颈外科疾病北京市重点实验室,100045

出　　处：《中华耳科学杂志》2020年第5期829-832,共4页Chinese Journal of Otology

基　　金：北京市医院管理中心儿科学科协同发展中心专项经费资助,编号:XTYB201828。

摘　　要：目的对1例Waardenburg综合征2型先证者及其家系成员进行基因测序分析,探讨其可能的分子生物学病因,进一步探讨Waardenburg综合征2型的分子遗传学特征。方法对所收集家系进行临床诊断,提取家系成员的外周血DNA,目标基因进行区域捕获测序,扩增的PCR产物酶切后进行测序分析,利用软件及遗传学网站的信息分析数据。结果先证者存在SOX10基因杂合突变c.346C>T(p.Q116X),该突变为无义突变,可能造成蛋白截短体,经家系验证分析,先证者父母该位点均无变异,此变异为新发突变,保守性分析提示具有高度保守性,多个物种氨基酸序列一致。结论 SOX10基因c.346C>T(p.Q116X)在此Waardenburg综合征2型一家系为一新发突变位点,该突变可能造成蛋白截短,进而影响SOX10基因功能,该结果为进一步深入研究Waardenburg综合征,了解SOX10基因功能提供了线索。Objective To investigate the genetic causes and characteristics of Waardenburg syndrome type 2 in a Chinese family.Method Members of the pedigree were evaluated for clinical diagnosis and DNA was extracted from peripheral blood.The target genes were sequenced,and amplified PCR products were digested and sequenced.Data were analyzed using software and information on genetic websites.Result A heterozygous mutation c.346c>t(p.Q116x)in the SOX10 gene was identified in the proband,which is nonsense mutation and may cause protein truncation.This was determined to be a spontaneous mutation(as pedigree analysis showed no mutation at this site in parents of the proband)and highly conservative with consistent amino acid sequences across many species.Conclusion SOX10 gene c.346c>t(p.Q116x)is a novel mutation site in Waardenburg syndrome type 2.The mutation may cause protein truncation and affect SOX10 gene function.These results provide guidance for future studies on Waardenburg syndrome and for understanding functions of the SOX10 gene.

关 键 词：Waardenburg综合征2型 SOX10基因 耳聋 突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]