A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R) / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 374-377, 2010.
Artigo
em Coreano
| WPRIM
| ID: wpr-650909
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).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fatores de Coagulação Sanguínea
/
Implantes Cocleares
/
Implante Coclear
/
Surdez
/
Perda Auditiva Neurossensorial
/
Orelha Interna
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Ano de publicação:
2010
Tipo de documento:
Artigo
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