Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China

摘要

Background: Disease-associated mutations in GJB2 gene are one of the major reasons that can cause nonsyndromic sensorineural hearing loss (NSHL). GJB2 gene deafness has various clinical phenotypes. This study aims to analyze characteristics and relationships of clinical phenotypes through analyzing 1481 NSHL cases and 190 GJB2 deafness patients (with dual gene mutations).