Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
OBJECTIVE
To analyze the phenotype in a 5-generation DFNA13 family with a missense mutation in the COL11A2 gene that causes autosomal dominant, presumably prelingual, nonsyndromic sensorineural hearing impairment.


METHODS
Family study.


METHODS
University hospital department.


METHODS
Twenty mutation carriers from a large American kindred.


METHODS
Cross-sectional analysis using pure-tone threshold measurements at 0.25, 0.5, 1, 2, 4, and 8 kHz. The audiometric configuration was evaluated according to an existing consensus protocol. The significance of features relating to audiometric configuration was tested using 1-way analysis of variance. Progression was evaluated with linear regression analyses of threshold-on-age.


RESULTS
Most individuals showed midfrequency (U-shaped) characteristics. The mean threshold in generations IV and V was 44 dB at 1, 2, and 4 kHz (midfrequencies); it was 29 dB at the other frequencies (0.25, 0.5, and 8 kHz). There was no significant progression beyond presbyacusis.


CONCLUSIONS
The trait in this family can be characterized as autosomal dominant, nonprogressive, presumably prelingual, midfrequency sensorineural hearing impairment.
De Leenheer
E M
EM
Department of Otorhinolaryngology, University Medical Centre St Radboud, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Kunst
H H
HH
McGuirt
W T
WT
Prasad
S D
SD
Brown
M R
MR
Huygen
P L
PL
Smith
R J
RJ
Cremers
C W
CW
D000293:Adolescent; D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003430:Cross-Sectional Studies; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014481:United States