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KMID : 0361020100530060374
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Korean Journal of Otolaryngology - Head and Neck Surgery
2010 Volume.53 No. 6 p.374 ~ p.377
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A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R)
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Park Jung-Hong
Kim Lee-Suk
Jeong Sung-Wook
Ahn Tae-Joo
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Abstract
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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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KEYWORD
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DFNA9, COCH gene, Genetic hearing loss, Cochlear implantation
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