Results of hearing screening and genetic sequencing in 18 865 neonates in Haikou

WANG Wenfang; HAN Yanmei; SHI Lisen; XING Zengwen; HAN Yu; FU Mianai

doi:10.3969/j.issn.1672-2922.2026.03.012

Abstract：Objective The results of hearing screening and gene sequencing in 18 865 neonates in Haikou area are reported to promote the prevention and control of deafness in the region.Methods Heel blood samples from newborns delivered at healthcare facilities in Haikou between April 2024 and December 2024 were collected and screened for 20 mutations in four common hereditary deafness genes(GJB2,GJB3,SLC26A4 and MT-RNR1)using high-throughput sequencing technology(combinatorial probe anchor synthesis sequencing method).This was combined with hearing screening to determine characteristics of deafness genes carriers and their hearing status.Results A total of 18 865 newborns were included,with a rate of mutant genes detection of 3.3%(622/18 865).The detection rate for the GJB2,SLC26A4,MT-RNR1 and GJB3 genes was 1.4%,1.1%,0.5%and 0.3%,respectively,with the detection rate of compound heterozygous mutation involving two genes at 0.1%.The most frequent mutations were c.235delC heterozygous mutation(1.2%),c.919-2A＞G heterozygous mutation(0.9%),m.1095T＞C homozygous mutation(0.3%),and c.538C＞T heterozygous mutation(0.2%).The rate of SLC26A4 gene mutations in Li ethnic newborns was significantly higher than that in Han and Miao ethnic newborns(P＜0.05).The detection rates and composition ratios of deafness gene mutations were not significantly different between genders(P＞0.05).Among the 18 865 newborns,4 were diagnosed with childhood hearing loss.Conclusions Deafness gene mutations among newborns in Haikou area involves mainly the GJB2 gene,with c.235delC and c.919-2A＞G being the most common.The rate of SLC26A4 gene mutations among Li ethnic newborns is higher.The information can be used to formulate deafness prevention and control strategies.