Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.
Yongan ZhouChao LiMin LiZhonghua ZhaoShuxiong TianHou XiaPeixian LiuYaxin HanRuirui RenJianping ChenCaihong JiaWei GuoPublished in: Molecular genetics & genomic medicine (2019)
In our research, it was found that c.235delC in GJB2 and c.919-2A>G (IVS7-2A>G) in SLC26A4 were the highest frequency pathogenic variants in Shanxi Province. Taken together, our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment.