儿童听力筛查未通过的原因及耳聋基因检测分析

Etiology of hearing screening failure in children and analysis of deafness gene detection

目的探讨儿童听力筛查未通过原因及耳聋基因筛查的意义。方法扬州市就诊我院门诊的14岁及以下入学儿童听力筛查未通过245人,所有儿童均行声导抗及耳声发射检查,5周岁及以上儿童进行纯音测听检查,5周岁以下儿童进行行为测听检查,不能配合者行ABR检查。基因筛查采用4个基因(GJB2、SLC26A4、12SrRNA和GJB3)20个位点的高通量测序。结果复测通过64人(26.12%),耵聍栓塞及外耳道疾病31人(12.65%),分泌性中耳炎132人(53.88%),急慢性中耳炎12人(4.90%),先天性中耳胆脂瘤2人(0.82%),小儿听神经病1人(0.41%),感音神经性聋1人(0.41%),大前庭水管综合征2人(0.82%)。GJB2基因杂合突变9人(3.67%),未筛查出纯合突变或复合杂合突变;SLC26A4基因杂合突变1人(0.41%),纯合突变1人(0.41%);线粒体12SrRNA基因突变携带1人(0.41%),未发现GJB3基因突变携带者。结论听力和耳聋易感基因联合筛查对发现耳聋和迟发性耳聋具有协同作用,解除病因和给予正确指导可降低耳聋的发生率。

Objective To explore the causes of hearing screening failures and the significance of deafness gene screening in children.Methods Acoustic immittance tests and transiently distortion product otoacoustic emission(DPOAE)tests were conducted in 245 school children under the age of 14 in Yangzhou who were referred after failing hearing screening bilaterally or unilaterally Children aged 5 years or older also underwent pure tone hearing threshold testing while those under 5 years underwent behavioral audiometry testing.Those who could not cooperate received auditory brainstem responses(ABR)testing.Gene screening used high-throughput sequencing of 20 loci of 4 genes(GJB2,SLC26A4,12SrRNA and GJB3).Results Sixty-four children(26.12%)passed the second screening,Potential causes for failing screening included cerumen embolism and external auditory canal diseases(n=31,12.65%),secretory otitis media(n=132,53.88%),acute or chronic otitis media(n=12,4.90%),congenital cholesteatoma(n=2,0.82%),auditory neuropathy in children(n=1,0.41%),sensorineural deafness(n=1,0.41%),enlarged-vestibular-aqueduct-syndrome(n=2,0.82%).There were 9(3.67%)GJB2 carriers,and no homozygous mutation or heterozygous mutation was found;There were 2(0.82%)SLC26A4 carriers,among whom1 showed homozygous mutation without heterozygous mutation.There was one mitochondrial 12S rRNA mutation(0.41%)and no GJB3 mutation was found.Conclusion The combined screening of hearing and deafness susceptibility genes has a synergistic effect on the discovery of deafness and late-onset deafness.Relieving the etiology and giving correct guidance can reduce the incidence of deafness.