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Autosomal Dominant Inherited Hearing Impairment Caused by a Missense Mutation in COL11A2 (DFNA13)
Els M. R. De Leenheer, MD;
Henricus P. M. Kunst, PhD;
Wyman T. McGuirt, MD;
Sai D. Prasad, MD;
Matthew R. Brown, MD;
Patrick L. M. Huygen, PhD;
Richard J. H. Smith, MD;
Cor W. R. J. Cremers, PhD
Arch Otolaryngol Head Neck Surg. 2001;127:13-17.
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.
Design Family study.
Setting University hospital department.
Patients 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.
Conclusion The trait in this family can be characterized as autosomal dominant,
nonprogressive, presumably prelingual, midfrequency sensorineural hearing
impairment.
From the Department of Otorhinolaryngology, University Medical Centre
St Radboud, Nijmegen, the Netherlands (Drs De Leenheer, Kunst, Huygen, and
Cremers); and the Molecular Otolaryngology Research Laboratories, Department
of Otolaryngology–Head and Neck Surgery, The University of Iowa, Iowa
City (Drs McGuirt, Prasad, Brown, and Smith).
Corresponding author: Cor W. R. J. Cremers, PhD, Department of Otorhinolaryngology,
University Medical Centre St Radboud, PO Box 9101, 6500 HB, Nijmegen, the
Netherlands (e-mail: d.helsper{at}kno.azn.nl).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Hereditary deafness and phenotyping in humans
Bitner-Glindzicz
Br Med Bull 2002;63:73-94.
ABSTRACT
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