中华耳科学杂志2025，Vol.23Issue(9)：1009-1014,6.DOI:10.3969/j.issn.1672-2922.2025.09.001
海南地区300例耳聋患儿基因检测结果分析
Results of genetic testing in 300 children with hearing loss in Hainan province
摘要
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.关键词
耳聋基因/基因变异/高通量测序/海南地区Key words
hearing loss genes/gene variation/high-throughput sequencing/Hainan region引用本文复制引用
许晶,周多,林丹,黄仁良,周俏苗..海南地区300例耳聋患儿基因检测结果分析[J].中华耳科学杂志,2025,23(9):1009-1014,6.基金项目
2024年海南省卫生健康科技创新联合项目(WSJK2024QN087) （WSJK2024QN087）
海南省临床医学中心建设项目资助(琼卫医函[2021]75号) （琼卫医函[2021]75号）
海南省妇女儿童医学中心"1126计划"项目资助(QFY202416-1126-GG-07) （QFY202416-1126-GG-07）
