摘要
目的分析山东地区新生儿遗传性耳聋基因携带情况和听力损失情况。方法2019年4月至2019年10月收集山东地区1056例新生儿足跟血样本,使用东莞博奥木华基因科技有限公司BioelectronSeq 4000对GJB2、SLC26A4、MT-CO1、TMC1、GPR98、DFNA5、MYO7A等18个遗传性耳聋基因的100个位点进行NGSPanel检测。同时在分娩医院进行听力学初筛、复筛,复筛未通过的患儿要求在三月龄进行听力诊断。结果1056例新生儿中听力学筛查未通过者5人,占全部人数的0.47%。经听力学诊断,确诊听力损失患儿3人,其中2人遗传性耳聋基因检测阳性,分别为SLC26A4基因c.2168A>G杂合突变,GJB2基因c.176-191del16/c.253T>C复合杂合突变。NGS Panel检测发现耳聋基因突变者77人,检出率为7.29%。其中GJB2基因杂合突变29例,复合杂合突变1例,携带率2.84%;SLC26A4基因杂合突变37例,携带率3.50%;线粒体12SrRNA基因均质突变1例,检出率为0.10%;GJB3基因杂合突变8例,检出率为0.76%;SLC26A4基因杂合突变合并线粒体12SrRNA基因均质突变检出1例,检出率为0.10%。结论应用NGSPanel技术能显著的提高耳聋基因检出率。山东地区正常人群致聋基因突变以SLC26A4基因最为常见。在传统的听力筛查基础上采用更多致聋位点的NGSPanel对耳聋基因进行检测,可对听力残疾进行有效预警、提前干预。因此,对新生儿进行听力与更多致聋基因联合筛查具有极大的临床意义和应用价值。
Objective To report deafness gene mutations and hearing loss in newborns in Shandong Province.Methods Heel blood samples were collected from 1,056 newborns from April 2019 to October 2019 in Shandong Province.The BioelectronSeq 4000 test kit was used to perform NGS Panel testing,targeting 100 loci on 18 genes including GJB2,SLC26A4,MT-CO1,TMC1,Gpr98,DFNA5 and MYO7A.Audiological screening and re-screening were performed simultaneously in the delivery hospital,and the children who failed re-screening were referred to hearing diagnosis within three months.Results Among the 1056 newborns,5 failed hearing screening(0.47%),of whom.By audiological diagnosis,3 children with hearing loss was diagnosed in 3 and 2 were positive for carrying deafness gene mutations,including c.2168A>G heterozygous mutation of the SLC26A4 gene and c.176-191del16/c.253T>C compound heterozygous mutation of the GJB2 gene.Gene mutations were detected in 77 cases(7.29%)by genetic screening,including heterozygote GJB2 mutations(n=29),compound heterozygote GJB2 mutations(n=1),heterozygote SLC26A4 mutations(n=37),heterozygote GJB3 mutations(n=8),and homogeneous 12SrRNA mutation(n=1).Total mutation carrier frequency was 2.84%for GJB2,3.50%for SLC26A4,0.76%for GJB3,and 0.10%for 12SrRNA.Simultaneous SLC26A4 and 12SrRNA mutations were identified in 1 case.Conclusion The NGS Panel technology can significantly improve deafness gene detection.SLC26A4 gene mutations are the most common cause of deafness in Shandong Province.As a supplement to traditional hearing screening,testing of multiple deaf gene hotspots by the NGS Panel can provide an opportunity for early warning and early intervention for hearing disability.Therefore,combined hearing and genetic screening in newborns has great values in clinical application.
作者
孙毅
刘雅琳
刘晓莉
孙丽丽
潘持国
张斌
SUN Yi;LIU Yalin;LIU Xiaoli;SUN Lili;PAN Chiguo;ZHANG Bin(Shandong Rehabilitation Research Center,Shandong Rehabilitation Hospital,Jinan,250109)
出处
《中华耳科学杂志》
CSCD
北大核心
2021年第4期572-576,共5页
Chinese Journal of Otology
