Journal article
Otosclerosis: a genetically heterogeneous disease involving at least three different genes
Bone (New York, N.Y.), Vol.30(4), pp.624-630
2002
DOI: 10.1016/S8756-3282(02)00679-8
PMID: 11934656
Abstract
Otosclerosis is caused by abnormal bone homeostasis of the otic capsule, resulting in hearing impairment in 0.3%–0.4% of the white population. The etiology of the disease remains unclear and environmental as well as genetic factors have been implicated. We localized the first autosomal-dominant locus to chromosome 15 in 1998 (
OTSC1) in an Indian family and, recently, we reported the localization of a second gene for otosclerosis to a 16 cM interval on chromosome 7q (
OTSC2). In this study, we recruited and analyzed nine additional families (seven Belgian and two Dutch families with 53 affected and 20 unaffected subjects) to investigate the importance of these loci in autosomal-dominant otosclerosis. We completed linkage analysis with three microsatellite markers of chromosome 15 (D15S652, D15S1004, D15S657) and five microsatellite markers of chromosome 7 (D7S495, D7S2560, D7S684, D7S2513, D7S2426). In two families, results compatible with linkage to
OTSC2 were found, but in the seven remaining families
OTSC1 and
OTSC2 were excluded. Heterogeneity testing provided significant evidence for genetic heterogeneity, with an estimated 25% of families linked to
OTSC2. These results indicate that, besides
OTSC1 and
OTSC2, there must be at least one additional otosclerosis locus.
Details
- Title: Subtitle
- Otosclerosis: a genetically heterogeneous disease involving at least three different genes
- Creators
- K Van Den Bogaert - Department of Medical Genetics, University of Antwerp (UIA), Antwerp, BelgiumP.J Govaerts - University Department of Otolaryngology, St.-Augustinus Hospital, Antwerp, BelgiumE.M.R De Leenheer - Department of Otorhinolaryngology, University Medical Center St.-Radboud, Nijmegen, The NetherlandsI Schatteman - University Department of Otolaryngology, St.-Augustinus Hospital, Antwerp, BelgiumM Verstreken - Department of Otolaryngology, University of Antwerp (UIA), Antwerp, BelgiumW Chen - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USAF Declau - Department of Otolaryngology, University of Antwerp (UIA), Antwerp, BelgiumC.W.R.J Cremers - Department of Otorhinolaryngology, University Medical Center St.-Radboud, Nijmegen, The NetherlandsP.H Van De Heyning - Department of Otolaryngology, University of Antwerp (UIA), Antwerp, BelgiumF.E Offeciers - University Department of Otolaryngology, St.-Augustinus Hospital, Antwerp, BelgiumT Somers - University Department of Otolaryngology, St.-Augustinus Hospital, Antwerp, BelgiumR.J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USAG Van Camp - Department of Medical Genetics, University of Antwerp (UIA), Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Bone (New York, N.Y.), Vol.30(4), pp.624-630
- DOI
- 10.1016/S8756-3282(02)00679-8
- PMID
- 11934656
- NLM abbreviation
- Bone
- ISSN
- 8756-3282
- eISSN
- 1873-2763
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2002
- 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
- 9984006433102771
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