Results of genetic testing in 300 children with hearing loss in Hainan province
XU Jing
ZHOU Duo
LIN Dan
HUANG Renliang
ZHOU Qiaomiao
Abstract：Objective To report genetic mutation characteristics in children with hearing loss and provide a basis for preventing genetic hearing loss in Hainan region by we analyzing the carrier status of deafness-causing genes in 300 children with hearing loss in Hainan province,China.Methods Used high-throughput sequencing to detect 9 common hearing loss genes(COCH,GJB2,GJB3,GJB6,KCNQ4,POU3F4,MT-RNR1,SLC26A4 and TMIE)in children with hearing loss in Hainan region,from January to December 2023 aged 0～18 years,and analyzed their carrier status in these children.Results Among the 300 children,154 children(51.3%)were found to carry hearing loss genes,of whom,96(32.0%).had a definite genetic diagnosis(including homozygous,compound heterozygous and hemizygous mutations),and were heterozygous mutations in 58 cases(19.3%).Detected variants involved three genes,namely GJB2,SLC26A4 and POU3F4,respectively,with the GJB2 gene showing the highest total mutation rate at 45.0%and the main mutation form as c.109G>A.The main mutation form of SLC26A4 gene was c.919-2A>G.Two variants of the POU3F4 gene,i.e.c.530C>A hemizygous mutation and c.406C>T hemizygous mutation compound c.109G>A heterozygous mutation were detected.Conclusions The GJB2,SLC26A4 and POU3F4 genes are the most common pathogenic genes for genetic hearing loss in children in Hainan Province.The GJB2 c.109G>A mutation is a hotspot,and the carrier rate of POU3F4 mutations is relatively high in the Hainan population.Targeted genetic screening in newborns or during pregnancy may help reduce the incidence of deafness.
Keywords：hearing loss genesgene variationhigh-throughput sequencingHainan region
Publication Date：2025-12-20
Online Publishing Date：2025-12-11(First online date of this platform, not the publication date of the document)
Pages：6( 1009-1014 )