A novel <scp><i>MPZL2</i></scp> c.<scp>68delC</scp> variant is associated with progressive hearing loss in Chinese population and literature review

Abstract

In this study, we first identified two unrelated patients with <i>MPZL2</i>-related hearing loss in Chinese population, and a novel variant c.68delC. Our results expanded the mutation spectrum of deafness genes. Further studies are required to clarify the genotype-phenotype correlation and the progression of <i>MPZL2</i>-related hearing loss.