摘要
目的探讨非综合征型听力障碍患儿常见耳聋基因突变类型,了解重度G极重度患儿耳聋致病基因热点突变谱系及频率.方法选取我院就诊的249例非综合征型重度以上感音神经性聋患儿,进行4个常见耳聋基因(GJB2、SLC26A4、GJB3、12SrRNA)共20个突变位点的检测.结果249例非综合征型聋儿中,93例(37.35%)携带不同基因突变,其中纯合突变25例(10.04%),复合杂合突变26例(10.44%),单杂合突变33例(13.25%),线粒体突变9例(3.61%).GJB2基因突变49例(19.68%),SLC26A4基因突变35例(14.06%),MT-RNR1(12SrRNA)基因突变9例(3.61%),均为1555A>G同质突变;GJB3基因突变未检测出有患儿携带.SLC26A4基因突变35例(70耳)中,声诱发短潜伏期负反应(ASNR)引出率58.57%.结论非综合征型重度以上听力障碍患儿以GJB2基因和SLC26A4基因为最主要的致病基因,ASNR的出现可作为前庭水管扩大(LVAS)的诊断依据之一.
Objective To analyze the deafness gene mutations in children with non-syndromic hearing impairment(NSHI),and to investigate the mutation types and frequency of genes in severe-profound hearing impairment infants.Methods A total of 249 infants with severe profound hearing impairment diagnosed by our hospital were tested for 20 mutations of four causative genes,including GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA.Results In 249 cases with non-syndromic severe to profound sensorineural hearing loss,93 cases(37.35%)were found to carry causative mutation,25 of which with single gene homozygous mutations,26 of which with single gene and double site heterozygous mutations,and 33 with single-gene and single site mutations,mitochondrial gene variant 9 cases.Fourty-nine cases had GJB2 mutations.35 cases had SLC26A4 mutations.and 9 cases had mtDNA m.1555A>G mutation.GJB3 mutations didn't find In SLC26A4 mutations,35 cases(70 ears,58.57%)recorded the ASNR in ABR testing.Conclusion The GJB2 and SLC26A4 genes are the two common causative genes in this study.The occurrence of ASNR may one of the important evidences for enlarged vestibular aqueduct diagnosis.
作者
范有武
郑燕青
刘雅雪
FAN Youwu;ZHENG Yanqing;LIU Yaxue(Children's Hospital of Quanzhou,Maternity and Child Health Hospital of Quanzhou,Quanzhou,Fujian 362000,China)
出处
《福建医药杂志》
CAS
2022年第6期40-43,共4页
Fujian Medical Journal
关键词
非综合征型聋
基因突变
ASNR
non-syndromic severe profound deafness
gene mutations
ASNR
