Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2003
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
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Lemaire Francois X, Feenstra Louw, Huygen Patrick L M, Fransen Erik, Devriendt Koen, Van Camp Guy, Vantrappen Greet, Cremers Cor W R J, Wackym Phillip A, Koss John C
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgedAged, 80 and overAudiometry, Pure-ToneBelgiumChromosome AberrationsChromosome MappingDNA Mutational AnalysisDeafnessDisease ProgressionExtracellular Matrix ProteinsFemaleGenes, DominantGenetic Carrier ScreeningHearing Loss, SensorineuralHumansKaryotypingLongitudinal StudiesMaleMeniere DiseaseMiddle AgedPresbycusisProteinsSpeech Reception Threshold TestVestibular DiseasesVestibular Function Tests