Combined Hearing and Deafness Genes Screening in 3,328 Newborns

CHEN Minjuan; ZHA Jianmei; LI Xinxin; JIA Liang; ZHANG Guanbin

doi:10.3969/j.issn.1672-2922.2024.06.008

Abstract：Objective To report results of combined hearing and gene screening using microfluidic chips targeting 23 deafness mutations in the newborn population in Zhangjiagang,as an effort in providing scientific foundation for prevention and intervention of birth defects.Methods Dry blood specimens were collected from infants born in Zhangjiagang to be screened for twenty-three mutation hotspots on four common deafness-associated genes,i.e.GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA using microfluidic chips,combined with hearing screening to determine hearing status.Results A total of 3,328 neonates born between May 2022 and December 2022 were screened.Mutation hotspots were detected in 465 cases(13.97％,involving the GJB2 gene in 11.81％,the SLC26A4 gene in 1.44％,Mt12S rRNA variants in 0.24％and multiple genes in 0.27％).c.109 G>A was the most common mutation involving the GJB2 gene(9.74％),followed by c.235 del C(2.04％).Hearing loss was confirmed in 12 cases,including 5 cases with GJB2 c.109 G>A homozygous mutation,3 cases with GJB2 c.109 G>A compound heterozygous mutation,1 case with GJB2 c.235 del C homozygous mutation,1 case with GJB2 c.235 del C compound heterozygous mutation,and 2 cases with GJB2 c.235 del C heterozygous mutation.Conclusion GJB2 and SLC26A4 are the most common deafness-associated genes in Zhangjiagang,and GJB2 c.109 G>A is more common than c.235 del C among mutant alleles.The rate of mutations varies among deafness-associated genes hotspots in newborns.Future work should focus on hearing status in high-risk populations with effective screening to achieve early detection,diagnosis and intervention for improved prevention and management of birth defects.