听力复筛未通过儿童的听力学诊断及常见耳聋基因筛查结果分析  

Audiology Diagnosis and Mutation of Common Deafness Genes in Children Failing Hearing Rescreening

作　　者：刘宏彦[1] 刘恩庆[1] 李卫芹[1] 潘蕾[1] 冷俊宏[1] LIU Hongyan;LIU Enqing;LI Weiqin;PAN Lei;LENG Junhong(Tianjin Women and Children’s Health Center,300070)

机构地区：[1]天津市妇女儿童保健中心,天津300070

出　　处：《中华耳科学杂志》2023年第1期76-81,共6页Chinese Journal of Otology

基　　金：天津市医学重点学科(专科)建设项目资助(No.TJYXZDXK-075C)。

摘　　要：目的分析听力复筛未通过儿童听力障碍发生率及常见耳聋基因检出情况,探讨耳聋基因与听力表型的关系,为耳聋基因诊断和遗传咨询提供参考。方法天津市妇女儿童保健中心听力复筛未通过儿童2002人,所有儿童进行听力学诊断和常见耳聋基因检测。结果2002例儿童听力障碍发生率50.35%,基因突变检出率17.08%;听力障碍儿童耳聋基因突变检出率23.71%。GJB2基因、SLC26A4基因、GJB3基因及线粒体12SrRNA的突变检出率分别为9.34%、6.34%、0.45%和0.45%。GJB2基因突变率双耳聋高于单耳聋(χ^(2)=39.29,P<0.05);对称性聋高于非对称性聋(χ^(2)=11.24,P<0.05)。SLC26A4基因突变率双耳聋高于单耳聋(χ^(2)=27.72,P<0.05)。重度极重度耳聋GJB2和SLC26A4基因突变检出较高。结论听力复筛未通过儿童应及时进行听力学诊断及耳聋基因筛查。GJB2和SLC26A4是天津地区听力复筛未通过儿童常见的突变基因,其基因型相关的听力表型多表现双耳重度聋。本研究丰富了特定人群的耳聋基因突变情况,为遗传学咨询提供了数据资料。Objective To report incidence of hearing disorders and deafness gene mutations in children who failed hearing rescreening,and the relationship between deafness genes and hearing phenotype,to provide basis for genetic diagnosis of clinical deafness and genetic counseling.Methods Children who failed to pass the hearing rescreening at the Tianjin Women’s and Children’s Health Center(n=2002)received audiology diagnosis and deafness gene mutation testing.Results The incidence of hearing disorders was 50.35%in this cohort with deafness gene mutations detected in 342children(17.08%).The rate of deafness gene mutation was 23.71%in children with hearing disorders,involving the GJB2(9.34%),SLC26A4(0.45%),GJB3(6.34%)and 12SrRNA(0.45%)genes,respectively.The rate of GJB2 gene mutations in children with bilateral deafness was higher than in those with unilateral deafness(χ^(2)=39.29,P<0.05),and higher in those with symmetrical deafness than in those with asymmetric deafness(χ^(2)=11.24,P<0.05).The rate of SLC26A4 gene mutations was also higher in children with bilateral deafness than in those with unilateral deafness(χ^(2)=27.72,P<0.05).The rate of GJB2 and SLC26A4 gene mutations was higher in children with severe deafness.Conclusion Children who have failed initial hearing rescreening should receive diagnostic audiology evaluation and deafness genes screening promptly.Our results indicate that GJB2 and SLC26A4 are the most common in carrying mutations among these children in Tianjin.The main clinical manifestation in most patients with deafness gene mutations is bilateral severe hearing loss.This work helps expand the gene mutation spectrum among specific populations and provide important data for genetic counseling.

关 键 词：耳聋基因 听力筛查 耳聋 

分 类 号：R764[医药卫生—耳鼻咽喉科]