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Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Menieres disease

Usami, Shin-ichi; Takahashi, Kentaro; Yuge, Isamu; Ohtsuka, Akihiro; Namba, Atsushi; Abe, Satoko; Fransen, Erik; Patthy, Laszlo; Otting, Gottfried; Van Camp, Guy

Description

The COCH gene is the only gene identified in man that causes autosomal dominantly inherited hearing loss associated with vestibular dysfunction. The condition is rare and only five mutations have been reported worldwide. All affected families showed a similar progressive hearing loss and vestibular dysfunction. Since Meniere's disease-like symptoms have also been described in some families, it was suggested that COCH mutations might be present in some patients diagnosed with Meniere's disease....[Show more]

CollectionsANU Research Publications
Date published: 2003
Type: Journal article
URI: http://hdl.handle.net/1885/86052
Source: European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5201043

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