大前庭水管综合征患者SLC26A4基因的新突变分析  

Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome

作　　者：陈杰[1] 史陆森 周函[1] 朱光洁[1] 马登滨[1] 李嘉怡[1] 高下[1] 

机构地区：[1]南京医科大学鼓楼临床医学院耳鼻咽喉头颈外科江苏省医学重点学科南京鼓楼医院耳鼻咽喉研究所,南京210008

出　　处：《临床耳鼻咽喉头颈外科杂志》2017年第9期694-696,共3页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：南京市卫生局科研课题(No:ZKX13027);江苏省科教强卫工程项目

摘　　要：目的:对大前庭水管综合征患者进行SLC26A4基因检测,探讨大前庭水管综合征SLC26A4基因突变谱。方法:对行人工耳蜗植入的大前庭水管综合征患者运用直接测序法进行SLC26A4基因的序列分析。结果:发现1例男性患儿携带SLC26A4基因的新突变:347G>A,该突变使得位于第116位的甘氨酸变成天冬氨酸,而60例听力正常的对照组未发现此种突变。结论:347G>A是新发现的大前庭水管综合征的致病突变。Objective：To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.Method：Genomic DNA samples were extracted from peripheral blood of the cochlear implant recipients associated with enlarged vestibular aqueduct syndrome.The SLC26A4 mutations were analyzed by direct sequencing.Result：A novel missense mutation（347G〉A）of SLC26A4 gene was found in a male patient,which led to a substitution of codon 116 from glycine to asparagic acid.This mutation was not observed among 60 normal controls.Conclusion：The 347G〉A of SLC26A4 gene was a novel pathologic mutation,contributing to the mutation spectrum of SLC26A4 of enlarged vestibular aqueduct syndrome.

关 键 词：大前庭水管综合征 SLC26A4基因 序列分析 突变 

分 类 号：R764.3[医药卫生—耳鼻咽喉科]