title: A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Wilrijk, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Van Den Bogaert
authors.forename: P J
authors.initials: PJ
authors.lastname: Govaerts
authors.forename: I
authors.initials: I
authors.lastname: Schatteman
authors.forename: M R
authors.initials: MR
authors.lastname: Brown
authors.forename: G
authors.initials: G
authors.lastname: Caethoven
authors.forename: F E
authors.initials: FE
authors.lastname: Offeciers
authors.forename: T
authors.initials: T
authors.lastname: Somers
authors.forename: F
authors.initials: F
authors.lastname: Declau
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: P
authors.initials: P
authors.lastname: Van de Heyning
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D000483:Alleles; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010040:Otosclerosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D004247:DNA