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

Main Article Content

Cao Minh Thanh et al.

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.

Article Details

How to Cite
et al., C. M. T. (2021). Early Detection of Common Deafness Gene Mutations Associated with Diagnosis and Treatment. Annals of the Romanian Society for Cell Biology, 3173 - 3179. Retrieved from http://annalsofrscb.ro/index.php/journal/article/view/426
Section
Articles