title: Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
abstract: The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH. From the family with the novel G87W COCH mutation audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74) and with those obtained in G88E mutation carriers. Special attention was also given to a comparison of age-related features, such as progressive hearing loss and vestibular impairment. A novel mutation (G87W) in COCH is indicative of hearing impairment and vestibular dysfunction in the present family. Pure-tone thresholds, phoneme recognition scores, and vestibular responses of the G87W mutation carriers were essentially similar to those previously established in the P51S and G88E mutation carriers. Deterioration of hearing and vestibular function in the G87W mutation carriers started at the age of 43 years. Remarkably, similar to G88E mutation carriers, the proportion of patients over 40 years of age who developed complete vestibular areflexia was significantly lower for the G87W mutation carriers than for the P51S mutation carriers. In conclusion, the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers. However, subtle differences in terms of onset age and rate of progression seem to exist.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. R.Pauw@kno.umcn.nl
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Pauw
authors.forename: Rob W J
authors.initials: RW
authors.lastname: Collin
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Lies H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D018450:Disease Progression; D016326:Extracellular Matrix Proteins; D005192:Family Health; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009426:Netherlands; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012027:Reflex, Vestibulo-Ocular; D013067:Speech Perception / Q000502:physiology
chemical_list: C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins