Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
Int J Audiol
; 42(8): 475-80, 2003 Dec.
Article
in En
| MEDLINE
| ID: mdl-14658855
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Otosclerosis
/
Genetic Linkage
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
Int J Audiol
Journal subject:
AUDIOLOGIA
Year:
2003
Document type:
Article
Affiliation country: