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Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)
E M De Leenheer1, H H Kunst, W T McGuirt
1Department of Otorhinolaryngology, University Medical Centre St Radboud, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
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.