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Autosomal Dominant Inherited Hearing Impairment Caused by a Missense Mutation in COL11A2 (DFNA13)
Journal article   Open access   Peer reviewed

Autosomal Dominant Inherited Hearing Impairment Caused by a Missense Mutation in COL11A2 (DFNA13)

Els M. R De Leenheer, Henricus P. M Kunst, Wyman T McGuirt, Sai D Prasad, Matthew R Brown, Patrick L. M Huygen, Richard J. H Smith and Cor W. R. J Cremers
Archives of otolaryngology--head & neck surgery, Vol.127(1), pp.13-17
01/01/2001
DOI: 10.1001/archotol.127.1.13
PMID: 11177008
url
https://doi.org/10.1001/archotol.127.1.13View
Published (Version of record) Open Access

Abstract

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.Arch Otolaryngol Head Neck Surg. 2001;127:13-17-->

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