A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

Kris Van Den Bogaert; Paul J Govaerts; Isabelle Schatteman; Matthew R Brown; Goele Caethoven; F. Erwin Offeciers; Thomas Somers; Frank Declau; Paul Coucke; Paul Van de Heyning; Richard J. H Smith; Guy Van Camp

doi:10.1086/318185

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A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

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A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36

Kris Van Den Bogaert, Paul J Govaerts, Isabelle Schatteman, Matthew R Brown, Goele Caethoven, F. Erwin Offeciers, Thomas Somers, Frank Declau, Paul Coucke, Paul Van de Heyning, …

American journal of human genetics, Vol.68(2), pp.495-500

02/2001

DOI: 10.1086/318185

PMCID: PMC1235283

PMID: 11170898

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Abstract

Otosclerosis due to abnormal bone homeostasis of the otic capsule is a frequent cause of hearing loss in adults. Usually, the hearing loss is conductive, resulting from fixation of the stapedial footplate, which prevents normal ossicular vibration in response to sound. An additional type of sensorineural hearing loss may be caused by otosclerotic damage to the cochlea. The etiology of the disease is unknown, and both environmental and genetic factors have been implicated. Autosomal dominant inheritance with reduced penetrance has been proposed, but large families are extremely rare. To elucidate the pathogenesis of the disease, identification of the responsible genes is essential. In this study, we completed linkage analysis in a Belgian family in which otosclerosis segregates as an autosomal dominant disease. After excluding linkage to a known locus on chromosome 15 ( OTSC1 ), we found linkage on chromosome 7q, with a multipoint LOD score of 3.54. Analysis of key recombinant individuals maps this otosclerosis locus ( OTSC2 ) to a 16-cM interval on chromosome 7q34-36 between markers D7S495 and D7S2426.

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Title: Subtitle: A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36
Creators: Kris Van Den Bogaert - Department of Medical Genetics and
Paul J Govaerts - Department of Medical Genetics and
Isabelle Schatteman - Department of Medical Genetics and
Matthew R Brown - Department of Medical Genetics and
Goele Caethoven - Department of Medical Genetics and
F. Erwin Offeciers - Department of Medical Genetics and
Thomas Somers - Department of Medical Genetics and
Frank Declau - Department of Medical Genetics and
Paul Coucke - Department of Medical Genetics and
Paul Van de Heyning - Department of Medical Genetics and
Richard J. H Smith - Department of Medical Genetics and
Guy Van Camp - Department of Medical Genetics and
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.68(2), pp.495-500
DOI: 10.1086/318185
PMID: 11170898
PMCID: PMC1235283
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: The American Society of Human Genetics
Alternative title: Otosclerosis Gene Localization
Language: English
Date published: 02/2001
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: 9984006428402771

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