Bước đầu ứng dụng kỹ thuật giải trình tự gen thế hệ mới xác định đột biến gen liên quan khiếm thính bẩm sinh

Abstract

There are 15,000 hearing-impaired children born in Vietnam every year. Early detection of common deafness mutations is a key factor for diagnosing and helping hearing-loss children to develop their language and awareness normally. Objective: To identify the carrier rate of common deafness mutations in the Vietnamese population. Methods: 80 hearing-impaired and 100 normal children from Vietnam. Next generation sequencing technology was applied to detect 100 mutations of 18 deafness genes, namely GJB2, GJB3, SLC26A4, MT-RNR1, MT-CO1, MT-TL1, MT-TS1, MT-TH, DSPP, GPR98, DFNA5, TMC1, MYO7A, TECTA, DIABLO, COCH, MYO15A and PRPS1. Results: 17 mutations of deafness genes were identified in 14 hearing-impaired patients (accounting for 21.25% in total), including 8 cases of heterozygous mutations of gene GJB2 (5 cases of c.299-300delAT, 2 cases of c.235delC and 1 case of c.512insAACG); SLC26A4 (c.2168A>G and c.439A>G, 2 cases); TMC1 (c.1334G>A); MT-TH (m.12201T>C); MT-TL1 (m.3243A>G); and 4 cases of homozygous mutations of GJB2 (c.512insAACG, 2 cases) and MT-RNR1 (m.827A>G, m.961delTinsC). No mutations were identified in the control group. Conclusion: The incidence of deafness mutations in the hearing-loss group is 21.25%. Mutations of GJB2 cover the largest proportion (12.5%) among the 18 genes investigated, followed by the 12S rRNA gene. NGS is a modern technique that detects mutations accurately and is useful for the simultaneous diagnosis of multiple deafness-related gene mutations.