Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

W Chen; C Campbell; G Green; K Van Den Bogaert; C Komodikis; L Manolidis; E Aconomou; Y Kyamides; K Christodoulou; C Faghel; C Giguere; R Alford; S Manolidis; G Van Camp; R Smith

doi:10.1136/jmg.39.7.473

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Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

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Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

W Chen, C Campbell, G Green, K Van Den Bogaert, C Komodikis, L Manolidis, E Aconomou, Y Kyamides, K Christodoulou, C Faghel, …

Journal of medical genetics, Vol.39(7), pp.473-477

07/2002

DOI: 10.1136/jmg.39.7.473

PMCID: PMC1735167

PMID: 12114476

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Abstract

Clinical otosclerosis (OMIM 166800/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular chain mobility results in a conductive hearing loss. We identified the first locus for otosclerosis ( OTSC1 ) on chromosome 15 in 1998 and reported a second locus ( OTSC2 ) on chromosome 7 last year. Here we present results of a genome wide linkage study on a large Cypriot family segregating otosclerosis. Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3 , on chromosome 6p. The defined OTSC3 interval covers the HLA region, consistent with reported associations between HLA-A/HLA-B antigens and otosclerosis.

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Title: Subtitle: Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3
Creators: W Chen - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
C Campbell - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
G Green - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
K Van Den Bogaert - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
C Komodikis - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
L Manolidis - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
E Aconomou - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Y Kyamides - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
K Christodoulou - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
C Faghel - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
C Giguere - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
R Alford - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
S Manolidis - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
G Van Camp - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
R Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.39(7), pp.473-477
DOI: 10.1136/jmg.39.7.473
PMID: 12114476
PMCID: PMC1735167
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Publisher: BMJ Group
Language: English
Date published: 07/2002
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; Cardiovascular Medicine; Otolaryngology; Internal Medicine
Record Identifier: 9984007199902771

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