新生儿GJB2基因筛查及听力随访的意义  

The effects of newborn genetic screening for GJB2 and hearing follow-ups

作　　者：高儒真[1] 陈晓巍[1] 历东东 姜鸿[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科,北京100730

出　　处：《临床耳鼻咽喉头颈外科杂志》2015年第4期314-318,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金："十二五"国家科技支撑计划资助项目(No:2012BAI12B01);北京市自然科学基金面上项目(No:7122141)

摘　　要：目的:分析新生儿耳聋基因GJB2突变携带率及听力学表型,为更有效进行新生儿耳聋基因筛查提供依据。方法:选取2012-03-2013-12北京市新生儿血样23 836例,使用遗传性聋基因检测试剂盒重点筛查GJB2常见4个突变位点(c.35delG,c.176_191del16,c.235delC,c.299_300delAT)。通过追访和遗传门诊咨询综合分析新生儿耳聋基因结果及听力表型。结果:新生儿群体中,仅携带GJB2致病突变者共计622例(2.61%),其中携带单个c.35delG突变3例,c.176_191del16突变26例,c.235delC 467例,c.299_300delAT突变120例,同时明确5例c.235delC纯合子及1例c.235delC/c.299_300delAT复合杂合病例。通过电话及短信成功追访新生儿550例,追访成功率为88.6%。以前来遗传门诊咨询新生儿325例为研究对象,其听力初筛未通过率为13.8%(45/325),复筛未通过率为9.2%(30/325)。3月龄即明确诊断为不同程度听力损失者9例(2.8%,9/325),包括GJB2纯合/复合杂合病例6例和GJB2携带者3例。结论:GJB2导致耳聋表型多变,部分病例可通过听力筛查。GJB2致病突变的携带者也可表现为听力损失,需密切随访。耳聋基因筛查可通过预警有效提前GJB2导致耳聋的确诊时间。Objective：To determine the prevalence of GJB2 mutations in newborns and provide clinical experience for newborn genetic screening.Method：Blood samples of 23 836 newborns in Beijing from March 2012 to December 2013 were screened for hot spot mutations of GJB2 associated with hearing loss.The genetic screening results were comprehensively analyzed with hearing results in genetic counseling.Result：One or two pathogenic mutations of GJB2 were spotted in 622（2.61%）individuals.Among them,numbers of newborns with 1mutation of c.35 delG,c.176_191del16,c.235 delC and c.299_300delAT were 3,26,467 and 120.One compound heterozygote,and 5homozygotes were also identified.Five hundred and fifty（88.6%）newborns were followed up by telephones and SMS（short message service）and 325 newborns visit our genetic clinic regularly which were regarded as the research object.In the hearing screening,the referral rate for hearing loss in the first-step screening was13.8%（45/325）,and became 9.2%（30/325）upon retesting.Nine newborns（2.8%）were diagnosed as hearing loss of different degrees as early as 3months old,including 6homozygous/compound heterozygote and 3heterozygotes.Conclusion：Patients with GJB2 mutations have various phenotype.Newborns with homozygous/compound heterozygous GJB2 mutations may pass the hearing screening at first.Carriers of GJB2 may also have hearing problems.The combination of genetic and audiological screening can play an important role in deafness detections of infants before key period of speech development.

关 键 词：GJB2 突变 新生儿听力筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]