Research progress on the clinical audiological characteristics of p.V37I mutation in GJB2 gene

GJB2 gene is the commonest causative gene for autosomal recessive nonsyndromic hearing loss. The detection rate of GJB2 gene p.V37I mutation in Han Chinese hearing loss populations was higher than in the normal hearing populations. The p.V37I mutation is mainly associated withmild to moderate, delayed-onset and progressivehearing loss with a low penetrance rate of approximately 17% in the Chinese Han population. This paper reviews the clinical audiological characteristics of the p.V37I mutation in GJB2 gene, which can provide reference for clinical deafness gene diagnosis and genetic counseling. Key words: Deafness; Gene; Mutation