title: Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
abstract: Otosclerosis is the single most common cause of hearing impairment among adult caucasians. Little is known about its aetiology and its molecular aspects. Until now, genetic linkage in otosclerosis has been demonstrated in an Indian family and a Belgian family, showing the presence of two otosclerosis loci, OTSC1 and OTSC2, respectively. Linkage analysis has never been applied to Italian otosclerotic families. We have collected four multigenerational Italian otosclerotic families that show dominant transmission for the pathology. Here, we report a detailed audiological analysis of these families and a genetic linkage study on the OTSC1 and OTSC2 loci. Statistical analysis revealed the absence of linkage between the disease in our families and the OTSC1 and OTSC2 loci. These data strongly suggest the presence of one or more additional loci for otosclerosis, which still need to be defined.
authors.affiliation: Institute of Genetics and Biophysics 'A. Buzzati Traversò, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Leva
authors.forename: Adamo Pio
authors.initials: AP
authors.lastname: D'Adamo
authors.forename: Luiaino
authors.initials: L
authors.lastname: Strollo
authors.forename: Gennaro
authors.initials: G
authors.lastname: Auletta
authors.forename: Antonella
authors.initials: A
authors.lastname: Caravelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Walter
authors.initials: W
authors.lastname: Livi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Michele
authors.initials: M
authors.lastname: D'Urso
authors.forename: Elio
authors.initials: E
authors.lastname: Marciano
authors.forename: Annamaria
authors.initials: A
authors.lastname: Franzé
mesh_terms: D000158:Acoustic Impedance Tests; D001301:Audiometry, Pure-Tone; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D010040:Otosclerosis / Q000235:genetics*; D010375:Pedigree