Korean J Otorhinolaryngol-Head Neck Surg.
2010 Jun;53(6):374-377. 10.3342/kjorl-hns.2010.53.6.374.
A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R)
- Affiliations
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- 1Department of Otolaryngology-Head and Neck Surgery, Dong-A University College of Medicine, Busan, Korea. su0305@lycos.co.kr
- KMID: 2277140
- DOI: http://doi.org/10.3342/kjorl-hns.2010.53.6.374
Abstract
- The autosomal dominant deafness disorder at the DFNA9 locus has been described and the clinical aspects extensively characterized, showing adult-onset, progressive sensorineural hearing loss and vestibular dysfunction. DFNA9 is caused by mutations of the human Coagulation factor C homology (COCH)gene. COCH encodes cochlin, a highly abundant secreted protein of unknown function in the inner ear. Several mutations have been identified so far: P51S, V66G, G87W, G88E, V104del, I109T, I109N, W117R, A119T, M512T, C542F, C542T. We hereby report a case of cochlear implantation in a 55-year-old man with bilateral sensorineural hearing loss, which is caused by a mutation in COCH gene (W117R).
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