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.
All Science Journal Classification (ASJC) codes
- Sensory Systems
- Clinical Neurology
- Autosomal dominant-Vertigo-Mé nière's Disease
- Gene linkage
- Genetic hearing loss
- Vestibular impairment