南京地区新生儿耳聋基因筛查联合听力筛查结果分析

Analysis of the results of genetic screening combined with hearing screening for newborn deafness in Nanjing

目的利用耳聋基因检测与听力筛查分析南京地区新生儿耳聋基因突变情况,为先天性耳聋防控提供参考依据。方法选取2019年7月至2021年12月南京地区出生的117652例新生儿作为本次研究对象。采用基因测序仪对SLC26A4基因、GJB2基因、GJB3基因、线粒体12SrRNA基因中的常见突变位点进行检测;采用耳声发射(OAE)法和听性脑干反应(ABR)法进行听力筛查。结果117652例新生儿进行耳聋基因筛查,共有5436例新生儿为基因突变携带者,阳性率为4.62%(5436/117652)。包含SLC26A4基因突变2052例(37.75%,2052/5436),GJB2基因突变2684例(49.37%,2684/5436),GJB3基因突变242例(4.45%,242/5436),线粒体12SrRNA基因突变383例(7.05%,383/5436),双基因突变75例(1.38%,75/5436)。117652例耳聋基因筛查的新生儿均进行听力初次筛查,其中通过听力初筛的新生儿有110734例,通过率为94.12%(110734/117652)。共有37例新生儿确诊为听力障碍,追溯其耳聋基因筛查结果,共有12例患儿为基因突变携带者,阳性率为32.43%(12/37)。37例听力障碍患儿同时追溯到基因筛查和听力筛查结果,其中有9例患儿通过听力初筛因耳聋基因检测提示高风险而进行听力诊断并确诊。结论南京地区新生儿耳聋基因突变以SLC26A4基因突变(c.919-2A>G/-)、GJB2基因突变(c.235delC/-)最多见,突变类型以杂合突变、复合杂合突变为主。对新生儿进行听力筛查和基因检测,能够发现药物性耳聋和迟发性耳聋的高危人群。

Objective To understand the status of deafness gene mutations in neonates in Nanjing by using deafness gene testing and hearing screening,and to provide reference for the prevention and control of congenital deafness.Methods A total of 117652 neonates born in Nanjing from July 2019 to December 2021 were selected as the subjects of this study.The common mutation sites in SLC26A4 gene,GJB2 gene,GJB3 gene and mitochondrial 12SrRNA gene were detected by gene sequencer.Hearing screening was performed by otoacoustic emission(OAE)method and auditory brainstem response(ABR)method.Results A total of 117652 neonates were screened for deafness genes,and a total of 5436 neonates were gene mutation carriers,with a positive rate of 4.62%(5436/117652).Among them,2052 neonates had SLC26A4 gene mutation(37.75%,2052/5436),2684 neonates had GJB2 gene mutation(49.37%,2684/5436),and 242 neonates had GJB3 gene mutation(4.45%,242/5436),383 neonates had mitochondrial 12SrRNA gene mutation(7.05%,383/5436),and 75 neonates had double gene mutation(1.38%,75/5436).All 117652 neonates with deafness gene screening underwent primary hearing screening,among which 110734 neonates passed the primary hearing screening,with a passing rate of 94.12%(110734/117652).A total of 37neonates were diagnosed with hearing impairment,and 12 neonates were gene mutation carriers,with a positive rate of 32.43%(12/37).The results of genetic screening and hearing screening were traced back to 37 children with hearing impairment.Among them,9 children were diagnosed by hearing screening because the genetic testing of deafness suggested high risk.Conclusion The most common deafness gene mutations in newborns in Nanjing area are SLC26A4 gene mutation(c.919-2A>G/-)and GJB2 gene mutation(c.235delC/-).The types of deafness gene mutation are mainly heterozygous mutation and compound heterozygous mutation.Hearing screening and genetic testing of newborns can identify high-risk groups for drug-induced deafness and delayed deafness.