Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family

Clin Otolaryngol Allied Sci. 2001 Dec;26(6):477-83. doi: 10.1046/j.1365-2273.2001.00505.x.

Abstract

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 Ménière'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 Ménière-like disease, from around middle age.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Amino Acid Substitution
  • Audiometry, Pure-Tone
  • Chromosomes, Human, Pair 14 / genetics
  • Cochlear Diseases / complications
  • Cochlear Diseases / diagnosis
  • Cochlear Diseases / genetics*
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Genotype
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Longitudinal Studies
  • Male
  • Meniere Disease / genetics
  • Middle Aged
  • Mutation*
  • Pedigree
  • Point Mutation*
  • Vertigo / complications
  • Vertigo / genetics
  • Vestibular Diseases / complications
  • Vestibular Diseases / diagnosis
  • Vestibular Diseases / genetics*
  • Vestibular Function Tests