新生儿耳聋基因联合听力筛查结果分析  

Concurrent genetic and universal screening for hearing impairment

作　　者：李卉 高唐鑫子 吴丹[2] 江雨霏 宋婕萍[1] 王维鹏[3] 戴翔[4] LI Hui;GAO Tangxinzi;WU Dan;JIANG Yufei;SONG Jieping;WANG Weipeng;DAI Xiang(Department of Clinical Laboratory;Department of Otorhinolaryngology;Department of Health Care,Maternal and Child Health Hospital of Hubei Province,Wuhan,Hubei 430070,China;Eugenic Genetics Laboratory,Wuhan Children′s Hospital Affiliated to Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430016,China)

机构地区：[1]湖北省妇幼保健院检验科,湖北武汉430070 [2]湖北省妇幼保健院耳鼻喉科,湖北武汉430070 [3]湖北省妇幼保健院保健部,湖北武汉430070 [4]华中科技大学同济医学院附属武汉儿童医院优生遗传实验室,湖北武汉430016

出　　处：《国际检验医学杂志》2019年第18期2223-2226,共4页International Journal of Laboratory Medicine

基　　金：湖北省自然科学基金青年项目(2017CFB271);湖北省妇幼保健院科研课题(220936022)

摘　　要：目的调查耳聋基因热点突变位点在武汉地区新生儿中的携带率,探讨新生儿耳聋基因筛查联合听力筛查的临床应用价值和意义。方法回顾性分析2016年1月至2017年12月在武汉市出生的11 231例足月新生儿听力筛查与耳聋基因筛查结果。新生儿出生后3 d采集足跟血,采用实时荧光定量PCR法对常见的3个基因4个位点进行筛查,包括GJB2 c.235delC、SLC26A4 c.919-2A>G、12S rRNA m.1555A>G及m.1494C>T,同时利用耳声发射法于生后48~72 h进行听力初筛,初筛未通过者在出生后42 d行听力复筛,复筛未通过者于出生后6个月进行听力评估与诊断。基因突变阳性或听力确诊未通过的病例采用一代测序法进行验证。结果11 231例新生儿中,59例未通过6月龄听力检测。耳聋基因检测检出346例(占3.08%)携带耳聋基因突变,包括GJB2 c.235delC突变199例,c.176del16突变2例,c.427C>T杂合突变1例;c.235delC/c.257C>G复杂杂合突变1例,c.235delC/c.299delAT复杂杂合突变2例,c.235delC/c.427C>T复杂杂合突变1例;SLC26A4 c.919-2A>G突变113例;线粒体12S rRNA m.1555A>G突变20例及m.1494C>T突变1例。GJB2基因突变合并SLC26A4基因突变2例;GJB2基因突变合并线粒体基因突变4例。结论部分类型的耳聋基因突变携带患儿出生时不表现出听力异常,单纯应用常规听力筛查会漏检部分耳聋高危患儿。新生儿常规听力筛查联合耳聋基因筛查,有助于提高耳聋患儿的检出率,有利于耳聋患儿的早期发现及早期干预。Objective To investigate the prevalence and distribution of deafness-related gene mutation in newborns and to assess the clinical value of concurrent genetic and universal newborn hearing screening(UNHS).Methods A retrospectively analysis were performed in a total of 11 231 newborns in 2016 and 2017.All newborns accepted simultaneous hearing screening and genetic screening targeting 4 deafness-associated mutations commonly found in the Chinese population,including c.235delC of the GJB2 gene,c.919-2A>G of the SLC26A4 gene,and m.1555A>G and m.1494C>T of the mitochondrial 12S rRNA gene.Cases with gene mutations or failed the hearing tests were verified by Sanger sequencing.Results Of the 11 231 newborns,59 cases failed to pass the hearing tests.Neonatal genetic screening identified 346(3.08%)babies with at least 1 mutated allele for deafness,including GJB2 c.235delC(199 cases),c.176del16(2 cases),c.427C>T(1 case),c.235delC/c.257C>G(1 case),c.235delC/c.299delAT(2 cases)and c.235delC/c.427C>T(1 case),SLC26A4 c.919-2A>G(113 cases),m.1555A>G(20 cases)and m.1494C>T(1 case)and two cases of GJB2 gene mutation combined with SLC26A4 gene mutation,4 cases of GJB2 gene mutation combined with mitochondrial gene mutation.Conclusion We confirmed the utility of neonatal genetic screening for common deafness-associated mutations in identifying infants with late-onset or progressive hearing impairment which undetectable by UNHS,thus compensate for the inherent limitation of the UNHS.

关 键 词：新生儿 耳聋基因 听力筛查 联合筛查 

分 类 号：R446.9[医药卫生—诊断学] R764.5[医药卫生—临床医学]