Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family
- 1 September 2003
- journal article
- Published by Wolters Kluwer Health in Otology & Neurotology
- Vol. 24 (5) , 743-748
- https://doi.org/10.1097/00129492-200309000-00009
Abstract
To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family. Tertiary referral centers. A multigeneration Belgian family with late-onset progressive sensorineural hearing loss and concomitant ves-tibular 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. 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.Keywords
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