SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.

ABSTRACT:

Background

Otosclerosis is a common cause of adult-onset progressive hearing loss, affecting 0.3%-0.4% of the population. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone, impairing sound conduction through the middle ear. Otosclerosis has a well-known genetic predisposition including familial cases with apparent autosomal dominant mode of inheritance. While linkage analysis and genome-wide association studies suggested an association with several genomic loci and with genes encoding structural proteins involved in bone formation or metabolism, the molecular genetic pathophysiology of human otosclerosis is yet mostly unknown.

Methods

Whole-exome sequencing, linkage analysis, generation of CRISPR mutan

SUBMITTER: Drabkin M 

PROVIDER: S-EPMC10756932 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature