Article
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Journal of medical genetics - 19 Jan 2024
Drabkin Max, Jean Matan M, Noy Yael, Halperin Daniel, Yogev Yuval, Wormser Ohad, Proskorovski-Ohayon Regina, Dolgin Vadim, Levaot Noam, Brumfeld Vlad, Ovadia Shira, Kishner Mor, Kazenell Udi, Avraham Karen B, Shelef Ilan, Birk Ohad S
Abstract excerpt
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...
Topics
- Adult
- Humans
- Mice
- Animals
- Otosclerosis
- Blister
- Genome-Wide Association Study
- Reflex, Startle
- Hearing Loss
- Phenotype
- Mice, Transgenic