MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

ABSTRACT:

Background

Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss.

Methods

In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss patients with bi-allelic pathogenic or likely pathogenic variants in MPZL2. These patients were identified from a 3272 Chinese patient cohort who underwent genetic testing.

Results

Apart from symmetrical and moderate sensorineural hearing loss, the MPZL2-related phenotype was characterized by progressive hearing loss with variation in the onset age (congenital defect to onset at the young adult stage). We determined that in the Chinese population, the genetic load of MPZL2 defects w

SUBMITTER: Zhang L 

PROVIDER: S-EPMC10804618 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature