Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.
Publication year
2001Source
Clinical Otolaryngology, 26, 6, (2001), pp. 477--83ISSN
Publication type
Article / Letter to editor
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Organization
Otorhinolaryngology
Journal title
Clinical Otolaryngology
Volume
vol. 26
Issue
iss. 6
Page start
p. 477-
Page end
p. 83
Subject
Hearing and Communication Disorders; Gehoor en communicatieAbstract
Cochleovestibular impairment was evaluated, in relation to age, in a longitudinal follow-up study on a Dutch family with a DFNA9 trait caused by a Pro51Ser mutation in the COCH gene on chromosome 14q12-q13. Fourteen cases were genotyped. The onset age of progressive impairment reported by the mutation carriers was between age 35 and 45 years. Pure-tone thresholds deteriorated by about 2-7 dB per year (mean 3.8 dB per year) in a variable, often asymmetrical, fashion. One mutation carrier developed recurrent episodes of vertigo accompanied by nausea and vomiting, resembling Meniere's disease. Two others developed special susceptibility for motion sickness and appeared to have a hyperactive vestibulo-ocular reflex. More advanced stages of vestibular impairment, i.e. vestibular hyporeflexia and complete vestibular areflexia, were eventually found in a number of cases. DFNA9/COCH should be considered as a possible cause in patients developing combined progressive cochlear and vestibular impairment, or suspected hereditary Meniere-like disease, from around middle age.
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- Academic publications [238441]
- Faculty of Medical Sciences [90373]
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