A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R).
10.3342/kjorl-hns.2010.53.6.374
- Author:
Jung Hong PARK
1
;
Lee Suk KIM
;
Sung Wook JEONG
;
Tae Joo AHN
Author Information
1. Department of Otolaryngology-Head and Neck Surgery, Dong-A University College of Medicine, Busan, Korea. su0305@lycos.co.kr
- Publication Type:Case Report
- Keywords:
DFNA9;
COCH gene;
Genetic hearing loss;
Cochlear implantation
- MeSH:
Blood Coagulation Factors;
Cochlear Implantation;
Cochlear Implants;
Deafness;
Ear, Inner;
Hearing Loss, Sensorineural;
Humans;
Middle Aged
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2010;53(6):374-377
- CountryRepublic of Korea
- Language:Korean
-
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).
