Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
OBJECTIVE
To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family.


METHODS
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.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001301:Audiometry, Pure-Tone; D001530:Belgium; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008137:Longitudinal Studies; D008297:Male; D008575:Meniere Disease / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D011304:Presbycusis / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013069:Speech Reception Threshold Test; D015837:Vestibular Diseases / Q000175:diagnosis / Q000235:genetics*; D014724:Vestibular Function Tests
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins