Journal article
Otosclerosis
Audiological medicine, Vol.1(1), pp.33-36
01/01/2003
DOI: 10.1080/16513860301711
Abstract
Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule and represents a frequent cause of hearing impairment among white adults. The conductive component of this hearing impairment is due to bony fixation of the stapedial footplate in the oval window, disturbing the conduction of sound vibrations from the middle to the inner ear. In some cases, a sensorineural component develops when the disease extends to the cochlea, leading to a mixed hearing impairment. Although the etiology of otosclerosis is controversial, and both a viral cause and autosomal dominant inheritance with reduced penetrance have been proposed, current evidence favours the latter hypothesis. Three large families segregating autosomal dominant otosclerosis have been used to identify three otosclerosis loci - OTSC1 on chromosome 15q25-26, OTSC2 on chromosome 7q34-36 and OTSC3 on chromosome 6p21-22. Further investigation of genetic heterogeneity within otosclerosis also shows that at least one additional locus must exist. These findings suggest that otosclerosis is, in parallel with non-syndromic sensorineural deafness, a genetically heterogeneous condition.
Details
- Title: Subtitle
- Otosclerosis
- Creators
- KRIS VAN DEN BogaertRICHARD JH SmithPAUL J GovaertsGuy Van Camp
- Resource Type
- Journal article
- Publication Details
- Audiological medicine, Vol.1(1), pp.33-36
- DOI
- 10.1080/16513860301711
- ISSN
- 1651-386X
- eISSN
- 1651-3835
- Language
- English
- Date published
- 01/01/2003
- Academic Unit
- Iowa Neuroscience Institute; Anatomy and Cell Biology; Internal Medicine; Otolaryngology; Stead Family Department of Pediatrics; Molecular Physiology and Biophysics; Roy J. Carver Department of Biomedical Engineering
- Record Identifier
- 9984256842402771
Metrics
3 Record Views