Mutation analysis of common deafness genes among 1,201 patients with non ‐syndromic hearing loss in Shanxi Province

ConclusionIn our research, it was found that c.235delC inGJB2 and c.919 ‐2A>G (IVS7 ‐2A>G) inSLC26A4 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.

Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Yongan Zhou, Chao Li, Min Li, Zhonghua Zhao, Shuxiong Tian, Hou Xia, Peixian Liu, Yaxin Han, Ruirui Ren, Jianping Chen, Caihong Jia, Wei Guo Tags: ORIGINAL ARTICLE Source Type: research