The phenotype of the first otosclerosis family linked to OTSC5.
OBJECTIVE
To report the audiometric and radiologic findings in the first otosclerosis family linked to OTSC5.


METHODS
A clinical investigation of a family linked to OTSC5, including analyses of audiometric data and of high-resolution computed tomography (CT) images of the temporal bones from genetically affected family members.


METHODS
Tertiary referral center.


METHODS
Family members from a four-generation pedigree with otosclerosis segregating as an autosomal dominant trait.


METHODS
Pre-surgery pure tone audiometric data. Classification of otosclerotic foci on high-resolution spiral CT images of the temporal bones of genetically affected individuals.


RESULTS
Audiometric data showed a considerable degree of phenotypic variability. Cross-sectional regression analysis did not disclose any clear age dependence of threshold-related data. Systematic differences between mean parameter values relating to the thresholds in the best or the worst ear were found. High-resolution CT images revealed a fenestral otosclerotic focus in seven of nine (78%) clinically affected individuals and cochlear foci in one of these seven patients.


CONCLUSIONS
The phenotype of OTSC5 seems to be variable. Additional long-term audiometric data are needed to construct age-related typical audiograms, which may also facilitate the comparison between phenotypes of the different otosclerosis loci. The detection rate of otospongiotic foci in our study group is similar or lower compared with previous reports on CT data in consecutive otosclerosis patients who had stapes replacing surgery.
Pauw
Robert J
RJ
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, and Department of Radiology, Rijnstate Hospital, Arnhem, The Netherlands. r.pauw@kno.umcn.nl
De Leenheer
Els M R
EM
Van Den Bogaert
Kris
K
Huygen
Patrick L M
PL
Van Camp
Guy
G
Joosten
Frank B M
FB
Cremers
Cor W R J
CW
D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D003430:Cross-Sectional Studies; D005190:Family; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D034381:Hearing Loss / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010040:Otosclerosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012044:Regression Analysis; D036542:Tomography, Spiral Computed