Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

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 otosclerosi...

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Bibliographic Details
Published in:International journal of audiology Vol. 42; no. 8; pp. 475 - 480
Main Authors: DI LEVA, Francesca, D'ADAINO, Adamo Pio, D'URSO, Michele, MARCIANO, Elio, FRANZE, Annamaria, STROLLO, Lucianu, AULEITA, Gennaro, CARAVELLI, Antonella, CARELLA, Massimo, MARI, Francesca, LIVI, Walter, RENIERI, Alessandra, GASPARINI, Paolo
Format: Journal Article
Language:English
Published: Hamilton, ON Decker 01-12-2003
Subjects:
Acoustic Impedance Tests
Audiometry, Pure-Tone
Biological and medical sciences
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Families
Female
Genetic factors
Genetic Linkage
Genotype
Humans
Italy
Linkage
Lod Score
Male
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Otosclerosis
Otosclerosis - genetics
Pedigree
Italy
Human
Italian
Family study
Internal ear disease
Genetic linkage
ENT disease
Genetics
Genetic disease
Otosclerosis
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Summary: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.
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ISSN:1499-2027
1708-8186
DOI:10.3109/14992020309081517