5000例新生儿耳聋基因携带者全外显子序列检测结果分析  

The Whole Exon Sequence of Deafness Gene Analyzed in 5000 Cases of Neonatal Deafness Gene Carriers

作　　者：吴海燕 孔德红 杨静静 孙磊 郭玲 WU Hai-yan;KONG De-hong;YANG Jing-jing;SUN Lei;GUO Ling

机构地区：[1]济宁市妇幼保健计划生育服务中心听力诊断中心,济宁272100

出　　处：《中国听力语言康复科学杂志》2023年第6期613-617,共5页Chinese Scientific Journal of Hearing and Speech Rehabilitation

基　　金：2021年济宁市重点研发计划项目(医学研究和临床医疗类)(济科字[2021]36号)。

摘　　要：目的 探讨GJB2和SLC26A4耳聋基因突变携带者携带另一个致病突变的可能性及其临床听力学特点。方法 选取2019年1月~2021年12月济宁地区5000名GJB2和SLC26A4耳聋基因突变新生儿携带者,其中GJB2全外显子序列检查2912例,SLC26A4全外显子序列检查2088例,对全外显子序列检查后携带另一个致病位点的新生儿均做听力学检查,包括听性脑干反应(ABR)、畸变产物耳声发射(OAE)、声导抗(acoustic immittance)、多频稳态诱发电位(ASSR)和小儿行为测听等,出生后6个月和12个月分别进行听力随访。结果 101例新生儿携带另一个致病位点,出生后3个月做听力诊断,6个月和12个月进行随访并检查,最后共30例确诊为不同程度的耳聋,74例听力正常。GJB2全外显子序列检测87例,其中听力正常67例、听力异常20例、轻度聋13例、中度聋2例、极重度聋5例。SLC26A4全外显子序列检测14例,听力正常4例,轻度聋3例,中度聋2例,重度或极重度耳聋5例。结论 GJB2和SLC26A4致病位点携带者进行全外显子序列检查是必要的,对检测出另一个致病位点的婴幼儿进行临床听力学检查和随访,对临床诊断及干预是良好的补充。Objective To investigate the possibility of carrying another mutation in GJB2 and SLC26A4 deafness genes and its clinical audiological characteristics,whole-exome sequencing(including all coding regions and splicing sites)was performed in the mutation carriers of GJB2 and SLC26A4 deafness genes.Methods The study subjects were 211,800 newborns born in Jining from January 1,2019 to December 31,2021,all of whom received genetic screening for neonatal deafness(including 4 genes and 20 loci).The screening results were as follows:There were 11860 deafness gene carriers,including 5718 GJB2 carriers and 4447 SLC26A4 carriers.The recall was notified by telephone,among which 2912 cases of GJB2 and 2088 cases of SLC26A4 were examined in full sequence.Audiological examination was performed on all neonates carrying another pathogenic site after full sequence examination.Auditory brainstem response(ABR),distortion product otoacoustic emission(OAE),acoustic immanence(AI),multifrequency steady-state evoked potential(ASSR)and behavioral audiometry were included in the hearing follow-up at 6 and 12 months after birth.Results A total of 5000 cases of hearing loss gene carriers including GJB2 and SLC26A4 were examined by whole-exome sequencing.It was found that 101 newborns carried another pathogenic locus,after 6 and 12 months follow-up,30 cases were diagnosed as hearing loss and 74 cases were normal hearing.The whole exon sequence of GJB2 was detected in 87 cases,including 67 cases of normal hearing,20 cases of abnormal hearing,13 cases of mild hearing loss,2 cases of moderate hearing loss,5 cases of severe hearing loss.The whole exon sequence of SLC26A4 was detected in 14 cases,4 cases were normal hearing,including 3 cases of mild hearing loss,2 cases of moderate hearing loss,5 cases of severe or severe hearing loss.Conclusion It is necessary to carry out full sequence examination for the carriers of GJB2 and SLC26A4 pathogenic sites,and clinical audiology examination and follow-up for infants and young children with another path

关 键 词：耳聋基因 听力 新生儿 全外显子序列 

分 类 号：R722.1[医药卫生—儿科]