成都市322 282名新生儿23项耳聋基因筛查突变频谱分析OA

Objective To report mutation types and spectrum of 23 deafness gene sites through neonatal screening in Chengdu,Sichuan Province,to provide evidence for etiological diagnosis and clinical intervention.Methods Newborns in Chengdu from May 1,2022 to June 30,2024(n=322 282)underwent 23-site deafness gene screening at Chengdu Women's and Children's Central Hospital,covering 4 genes.Mutation types,detection rate and allele frequency were analyzed.Results Among the 322 282 neonates screened,the overall rate mutation detection was remarkably high at 20.4045%(65 760/322 282),with the GJB2 gene exhibiting the highest mutation rate(19.0131%)involving most frequently c.109G＞A(16.6603%)and c.235delC(1.7776%).GJB2 mutations were homozygous or compound heterozygous in 3542 cases(1.0990%).The rate of mutation in other genes was:1.2951%for SLC26A4(most commonly c.919-2A＞G[0.8123%)and c.1229C＞T[0.1170%]),0.2315%for Mitochondrial 12S rRNA:and 0.2073%for GJB3.At the allele level,high-frequency mutation sites included GJB2 c.109G＞A(8.7530%),GJB2 c.235delC(0.8930%)and SLC26A4 c.919-2A＞G(0.4073%).Conclusions These findings help enrich the epidemiological data of neonatal deafness in Chengdu and provide a solid basis for etiological diagnosis and clinical intervention of neonatal hearing impairment.