Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G > A in Western Guangdong

ConclusionWe found the pathogenic mutation spectrum ofGJB2 in this region and showed that c.109G>A was the most commonGJB2 mutation with unique characteristics, such as clinical phenotypic heterogeneity and delayed onset. Therefore, the c.109G>A mutation should be considered as an essential marker for routine genetic assessment of deafness, which can also be beneficial for preventing deafness.

Source: Molecular Genetics & Genomic Medicine - April 18, 2023 Category: Genetics & Stem Cells Authors: Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wang Tags: ORIGINAL ARTICLE Source Type: research