Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
OBJECTIVE
To analyze cochleovestibular impairment features in P51S COCH mutation carriers (n = 22) in a new, large Dutch family and to compare the results to those obtained in previously identified similar mutation carriers (n = 52). To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74).


METHODS
Family study.


METHODS
Regression analysis was performed in relation to age to outline the development of hearing thresholds, speech recognition scores, and vestibulo-ocular reflex time constant as the key vestibular response parameter.


RESULTS
Pure tone thresholds, phoneme recognition scores, and vestibular responses of the mutation carriers in the new family were essentially similar to those previously established in all other mutation carriers. Hearing started to deteriorate in all mutation carriers from 43 years of age onwards, whereas deterioration of vestibular function started from age 34.


CONCLUSIONS
Vestibular impairment starts earlier, progresses more rapidly, and, eventually, is more complete than hearing impairment in P51S COCH mutation carriers.
Bischoff
Anne M L C
AM
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl
Huygen
Patrick L M
PL
Kemperman
Martijn H
MH
Pennings
Ronald J E
RJ
Bom
Steven J H
SJ
Verhagen
Wim I M
WI
Admiraal
Ronald J C
RJ
Kremer
Hannie
H
Cremers
Cor W R J
CW
D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002883:Chromosomes, Human, Pair 14; D015834:Cochlear Diseases / Q000235:genetics* / Q000503:physiopathology; D003638:Deafness / Q000150:complications / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012044:Regression Analysis; D014012:Tinnitus / Q000150:complications / Q000235:genetics; D014722:Vestibule, Labyrinth / Q000503:physiopathology*
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins