Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): Longitudinal analyses in a Belgian family

Francois X. Lemaire, Louw Feenstra, Patrick L.M. Huygen, Erik Fransen, Koen Devriendt, Guy Van Camp, Greet Vantrappen, Cor W.R.J. Cremers, Phillip A. Wackym, John C. Koss

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

Objective: To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family. Setting: Tertiary referral centers. Methods: A multigeneration Belgian family with late-onset progressive sensorineural hearing loss and concomitant vestibular impairment with an autosomal dominant pattern of inheritance underwent clinical and genetic evaluation. Medical history was recorded. Blood samples were taken for genetic linkage and mutation analyses. Pure-tone audiometry, speech audiometry and vestibular examinations were performed. Onset and progression in hearing impairment were evaluated with linear regression analysis of longitudinal threshold-on-age data. Results: Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene. Several patients had a Ménière's-like presentation. All patients developed late-onset progressive sensorineural hearing loss eventually leading to severe deafness and vestibular failure.

Original languageEnglish (US)
Pages (from-to)743-748
Number of pages6
JournalOtology and Neurotology
Volume24
Issue number5
DOIs
StatePublished - Sep 2003

All Science Journal Classification (ASJC) codes

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology

Keywords

  • Autosomal dominant-Vertigo-Mé nière's Disease
  • COCH
  • DFNA9
  • Gene linkage
  • Genetic hearing loss
  • Vestibular impairment

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