Early Detection of Common Deafness Gene Mutations Associated with Diagnosis and Treatment

Abstract

Approximately, there are tens of thousands hearing-impaired newborns in Vietnam annually. Early detection of common deafness mutations is a key factor in diagnosing, treatments, helping the hearing-impaired children to develop their language and with their social inclusion. The objective of our research is to identify the incidence of hearing-impaired mutations with Next Generation Sequencing (NGS) and evaluate the roles of mutations in deciding treatment methods. 100 diagnosed hearing-impaired children from Hanoi medical university hospital from 3/2017 till 10/2019 and their families took part in the research. Next Generation Sequencing (NGS) was applied to inspect 100 mutations on 18 genes, which are the most common in hearing-impaired patients worldwide. During the research 30 mutations in 100 children (30%) were identified, including both homozygous and heterozygous mutations of 6 genes: GJB2, SLC26A4, TMC1, 12S-rARN, MT-TH, MT-TL1. The incidence of deafness mutations was 30%. Mutations of gene GJB2 had the largest proportion (16%) among 6 genes indentified. All the mutations above showed positive results with cochlear implant.