安徽地区299例人工耳蜗植入患者常见耳聋基因检测分析  

Prevalence of hotspot deafness gene mutations in 299 cochlear implant patients in Anhui Province,China

作　　者：管锐瑞 韩明训 王艳琦 武洒洒 郭小涛 孙敬武 孙家强 GUAN Ruirui;HAN Mingxun;WANG Yanqi;WU Sasa;GUO Xiaotao;SUN Jingwu;SUN Jiaqiang(Department of Otolaryngology Head and Surgery,the First Affiliated Hospital of University of Science of Technology of China,Anhui Provincial Hospital,Hefei,Anhui,230001,China;Department of Otolaryngology Head and Neck Surgery,Yantai Yuhuangding Hospital,Qingdao University,Yantai,Shandong,264000,China)

机构地区：[1]中国科学技术大学附属第一医院(安徽省立医院)耳鼻咽喉头颈外科,安徽数合肥巴230001 [2]青岛大学附属烟台毓璜顶医院耳鼻咽喉头颈外科,山东烟台264000

出　　处：《中国耳鼻咽喉头颈外科》2023年第3期161-164,共4页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：国家自然科学基金青年项目(82201278);安徽省自然科学基金项目(2008085QH429);安徽省重点研究和开发计划项目(201904a07020087)。

摘　　要：目的初步筛查安徽地区299例人工耳蜗植入(cochlear implant,CI)患者中耳聋基因热点突变,初步了解该地区CI患者中耳聋基因热点突变谱系及发生频率。方法我们收集299例CI患者常见耳聋基因突变的临床资料和病历,利用基因芯片检测4种常见耳聋基因的9个突变位点:GJB2(c.35delG、c.176del16、c.235delC、c.299delAT),GJB3(c.538C>T),SLC26A4(c.2168A>G、c.IVS7-2A>G)和mtDNA 12S rRNA(c.1494C>T、c.1555A>G)。结果(1)299例CI患者中,148例(49.50%)携带不同的常见耳聋基因突变,其中GJB2突变96例(64.86%),SLC26A4突变51例(34.46%),GJB3基因突变2例(1.35%),mtDNA 12S rRNA突变6例(4.05%);(2)在50例(16.72%)前庭导水管扩大(EVA)患者中,32例(64.00%)检测出基因突变,其中20例(62.50%)存在单杂合突变;且17例(34.00%)听性脑干反应(ABR)测试过程中伴有声诱发短潜伏期反应的患者中,11例也存在基因突变。结论GJB2和SLC26A4是安徽地区CI患者最重要的致病基因,其中,c.235delC突变是最常见的突变,其次是c.IVS7-2A>G突变。对于许多伴有EVA的CI患者,4个常见耳聋基因的9个突变位点并非全部为纯合或双杂合。EVA的诊断包括基因检测、听力学、影像学和许多其他结合使用的诊断方法。OBJECTIVE To investigate the spectrum and incidence of deafness gene mutations of cochlear implant(CI)patients in Anhui Province,China.METHODS We collected the clinical data covering common deafness gene mutations and medical records from 299 CI patients.Nine mutation sites of four common deafness genes were detected by using microarray:GJB2(c.35delG,c.176del16,c.235delC,c.299delAT),GJB3(c.538CT),SLC26A4(c.2168 AG,c.IVS7-2AG),and mtDNA 12S rRNA(c.1494 CT,c.1555AG).RESULTS 1.Of 299 CI patients,148(49.50%)carried different common deafness gene mutations,specifically 96(64.86%)with GJB2 mutation,51(34.46%)with SLC26A4 mutation,2(1.35%)with GJB3 gene mutation,and 6(4.05%)with mtDNA 12S rRNA mutation;2.Of the 50(16.72%)patients with enlarged vestibular aqueduct(EVA),32(64.00%)had common gene mutations,among which 20(62.50%)had single heterozygous mutations;Of 17(34.00%)patients with acoustically evoked short latency negative response in auditory brainstem response(ABR),11 also had a gene mutation.CONCLUSION GJB2 and SLC26A4 are the most important pathogenic genes in Anhui Province.Among them,c.235delC mutation is the most common mutation,followed by c.IVS7-2AG mutation.For many CI patients with EVA,the 9 mutation sites of 4 common deafness genes are not all homozygous or double heterozygous.A diagnosis of EVA involves gene detection,audiology,imaging,and many other diagnostic methods used in combination.

关 键 词：点突变 耳蜗植入术 前庭水管 前庭导水管扩大 

分 类 号：R764.9[医药卫生—耳鼻咽喉科]