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Title: Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family
Authors: Lemaire, Francois X ×
Feenstra, Louw
Huygen, Patrick L M
Fransen, Erik
Devriendt, Koenraad
Van Camp, G
Vantrappen, Greta
Cremers, Cor W R J
Wackym, Phillip A
Koss, John C #
Issue Date: Sep-2003
Publisher: Lippincott Williams & Wilkins
Series Title: Otology & Neurotology vol:24 issue:5 pages:743-8
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 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.
ISSN: 1531-7129
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Experimental Oto-rhino-laryngology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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