Screening of 23 Deafness Gene Sites in 924 Infants with Hearing Impairment
LIU Qingsong
ZOU Ling
SUN Mengjie
QI Haiyun
XU Faliang
LI Chunrong
ZHANG Guanbin
Abstract：Objective To report results of screening of 23 deafness gene sites in 924 infants with hearing impairment in Chengdu to provide evidence for etiological diagnosis and clinical intervention.Methods From May 1,2022,to December 31,2023,924 infants failed hearing diagnostics in at least one ear among 250,726 newborns in Chengdu(3.69‰),and were screened using a microfluidic chip-based method that covered 23 sites across four deafness-associated genes(GJB2,SLC26A4,12SrRNA and GJB3).Mutation rates of deafness-related loci were calculated.Results Of the 924 infants with hearing impairment,419 had unilateral impairment(238 on left,181 on right)and 505 had bilateral impairment.Genetic testing identified pathogenic variants in 529(57.25%)of them,including biallelic mutations(homozygous or compound heterozygous)in 375(40.58%),with the rate of biallelic mutations significantly higher in bilateral impairment cases(57.23%,289/505)than in unilateral impairment cases(20.53%,86/419)(P<0.05).Left-ear impairment exhibited a higher rate of biallelic mutations(25.63%,61/238)compared to right-ear impairment(13.81%,25/181)(P<0.05).Conclusion Integrating 23-site neonatal deafness genetic screening into hearing screening enhances etiological diagnosis and provides a valuable basis for early clinical intervention in infants hearing impairment.
Keywords：infanthereditary deafnessdeafness genebiallelehearing diagnosis
Publication Date：2025-09-20
Online Publishing Date：2025-09-15(First online date of this platform, not the publication date of the document)
Pages：5( 775-779 )