Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation.
OBJECTIVE
Evaluation of hearing impairment as a feature of the nonocular Stickler syndrome (type II) linked to COL11A2.


METHODS
Family study.


METHODS
General, orthopaedic, ophthalmologic, and otorhinolaryngologic examinations were performed on 15 affected persons in a Dutch family. Audiograms were obtained and/or retrieved from elsewhere. Cross-sectional and longitudinal analyses were conducted on the hearing threshold (sensorineural component) in relation to the patient's age to evaluate whether hearing impairment was progressive.


RESULTS
Mixed hearing loss, i.e., including a substantial air-bone gap of up to 20 to 60 dB, was present in six cases, concomitantly with a submucous or overt cleft palate in five of them. The audiograms in 14 evaluable cases showed the following types of threshold: U-shaped (n = 3), flat (n = 2), flat or gently (downward) sloping (n = 3), gently sloping (n = 3), or steeply sloping (n = 3). Cross-sectional analysis did not reveal any significant effect of age on sensorineural hearing impairment.


CONCLUSIONS
In contrast to the classic Stickler syndrome (type I) with high myopia, this nonocular type shows a high prevalence of sensorineural hearing impairment. The mean sensorineural hearing threshold in our patients was about 40 dB HL (95% CI, 15-65 dB) and was liable to increase (presumably by presbycusis) by several tens of decibels at the highest frequencies. Given the tendency for otitis media to develop in many of these patients, appropriate otologic care is of major importance.
Admiraal
R J
RJ
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands. R.Admiraal@kno.azn.nl
Brunner
H G
HG
Dijkstra
T L
TL
Huygen
P L
PL
Cremers
C W
CW
D000328:Adult; D000367:Age Factors; D000704:Analysis of Variance; D001299:Audiometry; D001309:Auditory Threshold; D001844:Bone Conduction / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics*; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D016014:Linear Models; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009216:Myopia / Q000235:genetics; D010033:Otitis Media / Q000235:genetics; D011304:Presbycusis / Q000235:genetics; D015995:Prevalence; D011347:Procollagen / Q000235:genetics*; D013577:Syndrome
D011347:Procollagen