title: The genetics of otosclerosis.
abstract: Otosclerosis is a common form of conductive hearing loss with a prevalence of 0.3-0.4% in white adults. It is characterized by labyrinthine endochondral sclerosis which may invade the stapedio-vestibular joint and interfere with free motion of the stapes. Both environmental factors and genetic causes have been implicated in the disease process; however, the pathogenesis of otosclerosis still remains poorly understood. To date, several loci have been mapped in families segregating autosomal dominant otosclerosis although no disease-causing mutations have been identified. In contrast, several association studies have implicated specific genes but their effects on risk-of-disease are small. The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis.
authors.affiliation: Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Ealy
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D056726:Genetic Association Studies; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D010040:Otosclerosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype