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 autoso

SUBMITTER: Van Den Bogaert K 

PROVIDER: S-EPMC1235283 | biostudies-literature | 2001 Feb

REPOSITORIES: biostudies-literature