COCH 유전자 돌연변이로 인한 심도 감각신경성 난청 환자의 인공와우이식 1예
A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R)
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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). Korean J Otorhinolaryngol-Head Neck Surg 2010;53:374-7
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). Korean J Otorhinolaryngol-Head Neck Surg 2010;53:374-7
참고문헌 (8)
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