Journal article
The Genetics of otosclerosis
Hearing research, Vol.266(1), pp.70-74
2010
DOI: 10.1016/j.heares.2009.07.002
PMID: 19607896
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.
Details
- Title: Subtitle
- The Genetics of otosclerosis
- Creators
- Megan EalyRichard J.H Smith
- Resource Type
- Journal article
- Publication Details
- Hearing research, Vol.266(1), pp.70-74
- DOI
- 10.1016/j.heares.2009.07.002
- PMID
- 19607896
- NLM abbreviation
- Hear Res
- ISSN
- 0378-5955
- eISSN
- 1878-5891
- Publisher
- Elsevier B.V
- Language
- English
- Date published
- 2010
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006431002771
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