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.
Article
Dans Coréen
| 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).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Facteurs de la coagulation sanguine
/
Implants cochléaires
/
Implantation cochléaire
/
Surdité
/
Surdité neurosensorielle
/
Oreille interne
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Otolaryngology - Head and Neck Surgery
Année:
2010
Type:
Article
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