The DFNA10 Phenotype

Els M. R De Leenheer; Patrick L. M Huygen; Richard J. H Smith; Sigrid Wayne; W. R. J Cremers

doi:10.1177/000348940111000910

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Journal article

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The DFNA10 Phenotype

Els M. R De Leenheer, Patrick L. M Huygen, Richard J. H Smith, Sigrid Wayne and W. R. J Cremers

Annals of otology, rhinology & laryngology, Vol.110(9), pp.861-866

09/2001

DOI: 10.1177/000348940111000910

PMID: 11558763

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Abstract

We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over 15 years) showed progression of hearing loss at a rate of 0.6 dB/y over all frequencies, with a flat to gently sloping age-corrected threshold of about 50 dB. The results were significant at 0.25, 4, and 8 kHz, but only if corrections for presbycusis were not included. Longitudinal threshold analysis performed in 1 case, covering ages 6 to 32 years, showed progression of hearing loss at a rate of 2 to 3 dB/y over 0.25 to 8 kHz. Nonlinear regression analysis was performed on phoneme discrimination scores with use of sigmoidal dose-response curves with variable slope. On the basis of these data, the hearing loss phenotype in this American DFNA10 family can be described as postlingual, initially progressive, and resulting, without the influence of presbycusis, in largely stable, flat sensorineural deafness.

DFNA10

speech discrimination

autosomal dominant nonsyndromic hearing loss

Details

Title: Subtitle: The DFNA10 Phenotype
Creators: Els M. R De Leenheer - Nijmegen, the Netherlands
Patrick L. M Huygen - Nijmegen, the Netherlands
Richard J. H Smith - Iowa City, Iowa
Sigrid Wayne - Iowa City, Iowa
W. R. J Cremers - Nijmegen, the Netherlands
Resource Type: Journal article
Publication Details: Annals of otology, rhinology & laryngology, Vol.110(9), pp.861-866
DOI: 10.1177/000348940111000910
PMID: 11558763
NLM abbreviation: Ann Otol Rhinol Laryngol
ISSN: 0003-4894
eISSN: 1943-572X
Publisher: SAGE Publications; Los Angeles, CA
Language: English
Date published: 09/2001
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006422302771

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