新生儿遗传性耳聋基因筛查及JB2基因c.109G>A(p.V37I)位点纯合突变与耳聋临床表型的相关性  

Screening of hereditary deafness gene in newborns and correlation between homozygous mutation of c.109G>A(p.V37I)in JB2 gene and clinical phenotype of deafness

作　　者：巫朝霞[1,3] 梁丽笙[1,3] 袁贵龙[2] 覃桂锋[2] 毛中英[1,3] 吕丽吟[3] 戴其强 WU Zhao-xia;LIANG Li-sheng;YUAN Gui-long;QIN Gui-feng;MAO Zhong-ying;LV Li-yin;DAI Qi-qiang(Obstetrics and Gynecology Department,Nanhai Maternal and Child Health Care Hospital,Foshan 528200,China;Neonatology Department,Nanhai Maternal and Child Health Care Hospital,Foshan 528200,China;Prenatal Diagnostic Center,Nanhai Maternal and Child Health Care Hospital,Foshan 528200,China;Da'an Clinical Laboratory Center,Guangzhou 510000,China)

机构地区：[1]广东省佛山市南海区妇幼保健院妇产科,广东佛山528200 [2]广东省佛山市南海区妇幼保健院新生儿科,广东佛山528200 [3]广东省佛山市南海区妇幼保健院产前诊断中心,广东佛山528200 [4]广州达安临床检验中心有限公司,广东广州510000

出　　处：《广东医科大学学报》2020年第6期680-683,共4页Journal of Guangdong Medical University

基　　金：佛山市自筹经费类科技计划项目(No.2017AB000212)。

摘　　要：目的分析新生儿耳聋基因筛查数据,并对JB2基因c.109G>A(p.V37I)位点纯合突变新生儿听力临床表型进行追踪,探讨耳聋基因筛查及c.109G>A纯合突变的临床意义。方法对符合纳入标准的新生儿5304例进行耳聋基因筛查,对检出c.109G>A位点纯合突变的新生儿均进行包括听觉脑干诱发反应、多频稳态和声导抗等的听力学检测,并定期跟踪至2岁,分析c.109G>A位点纯合突变儿童的临床听力学特点。结果共检出GJB2基因突变1242例,检出率23.416%,其中c.109G>A位点突变频率为11.586%,检出c.109G>A位点纯合突变72例,检出率为1.357%。后续进行听力检测,定期跟踪至2岁,以<26dBHL为标准,0、1、2岁听力检测通过率分别为95.2%、77.2%、65.4%;以<41dBHL为标准,0、1、2岁听力检测通过率分别为97.6%、85.0%、72.4%,未发现重度听力损失,显示随着年龄增长,听力损失逐渐出现,且以轻中度听力损失为主。结论GJB2基因c.109G>A位点突变频率高,c.109G>A位点纯合突变可能与迟发性听力损失相关,可作为人群针对性的耳聋基因检测,临床应予以重视。Objective To analyze the screening data of hereditary deafness gene in newborns,trace the clinical phenotype of hearing of newborns with homozygous mutation of c.109 G>A(p.V37 I)in JB2 gene and investigate the clinical significance of screening of deafness gene and homozygous mutation of c.109 G>A.Methods Screening of deafness gene was performed on 5304 newborns who met the inclusion criteria.Audiological examinations including auditory brainstem response,auditory steady-state response and acoustic immitance were performed on newborns with homozygous mutation of c.109 G>A,who were regularly followed up to age 2.The clinical audiological characteristics of children with homozygous mutation of c.109 G>A were analyzed.Results A total of 1242(23.416%)newborns were identified with GJB2 mutation.The frequency of c.109 G>A mutation was 11.586%.A total of 72 cases were detected to have homozygous mutation of c.109 G>A,with the detection rate of 1.357%.The newborns received hearing test subsequently and regularly followed up until the age of 2.Taking<26 dBHL as the criteria,the passing rate in hearing test at the age of 0,1 and 2 was 95.2%,77.2%,and 65.4%,respectively;Taking<41 dBHL as the criteria,the passing rate in hearing test at the age of 0,1 and 2 was 97.6%,85.0%,and 72.4%,respectively,and no severe hearing loss was identified,which indicated that hearing loss gradually appears with the age and mainly manifests as mild and moderate hearing loss.Conclusion The frequency of c.109 G>A in GJB2 gene was high.The homozygous mutation of c.109 G>A may be associated with late-onset hearing loss.It may be taken as a deafness gene test and should be paid attention in clinical practice.

关 键 词：遗传性耳聋 GJB2基因 纯合突变 听力损失 

分 类 号：R764[医药卫生—耳鼻咽喉科]