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Progressive Late-Onset Sensorineural Hearing Loss and Vestibular Impairment with Vertigo (DFNA9/COCH): Longitudinal Analyses in a Belgian Family

Lemaire, Francois X.*; Feenstra, Louw*; Huygen, Patrick L. M.; Fransen, Erik; Devriendt, Koen§; Van Camp, Guy; Vantrappen, Greet*; Cremers, Cor W. R. J.*†

SENSORINEURAL HEARING LOSS
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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 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.

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.

*Department of Otorhinolaryngology and Head and Neck Surgery, University Hospitals Leuven, Belgium; †Department of Otorhinolaryngology, University Medical Center St Radboud, Nijmegen, The Netherlands; ‡Department of Medical Genetics, Universitaire Instellingen Antwerpen, Belgium; and §Department of Genetics, University Hospitals Leuven, Belgium.

Address correspondence and reprint requests to Dr. C. W. R. J. Cremers, Department of Otolaryngology, University Hospital Nimegen, POB 9101, 6500 HB Nijmegen, The Netherlands. Email: c.cremers@kno.umcn.nl

Accepted for publication April 19, 2001.

© 2003 Otology & Neurotology, Inc.