Clinical characteristics of newborns with the deafness- associated GJB2 variant p.V37i in Changzhi, China

Hearing loss affects over 430 million people globally, with genetic factors accounting for at least 50% of congenital cases. The GJB2 gene mutations are the most common cause of non-syndromic hearing impairment (NSHI) worldwide, but the clinical characteristics of the GJB2 gene missense mutation c.109G>A, a variant that causes the protein-level amino acid substitution p.V37I, remain indistinct. The objective of this study is to evaluate the prevalence and clinical impact of the c.109G>A mutation in the GJB2 gene among neonates through audiological and genetic tests.