Audiology and Neurotology

Original Paper

A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

Bischoff A.M.L.C.a · Luijendijk M.W.J.b · Huygen P.L.M.a · van Duijnhoven G.a,b · De Leenheer E.M.R.a · Oudesluijs G.G.a · van Laer L.c · Cremers F.P.M.b · Cremers C.W.R.J.a · Kremer H.a

Author affiliations

Departments of aOtorhinolaryngology and bHuman Genetics, University Medical Centre Nijmegen, Nijmegen, TheNetherlands; cDepartment of Medical Genetics, University of Antwerp, Belgium

Keywords: DFNA5 geneHearing impairment, progressiveHigh frequencySplicing defect

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Audiol Neurootol 2004;9:34–46
https://doi.org/10.1159/000074185

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: December 09, 2002
Accepted: July 03, 2003
Published online: December 19, 2003
Issue release date: January – February

Number of Print Pages: 13
Number of Figures: 8
Number of Tables: 1

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

For additional information: https://www.karger.com/AUD

Abstract

A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found in 18 individuals. Sensorineural hearing impairment was non-syndromic and symmetric. In early life, presumably congenitally, hearing impairment amounted to 30 dB in the high frequencies. Progression was most pronounced at 1 kHz (1.8 dB/year). Speech recognition was relatively good with a phoneme score of about 50% at the age of 70. Onset age was 37 years, and recognition deteriorated by 1.3% per year. The recognition score deteriorated by 1.0% per decibel threshold increase from a mean pure-tone average (PTA at 1, 2 and 4 kHz) of 63 dB onwards. Vestibular function was generally normal. The second mutation identified in the DFNA5 gene results in hearing impairment, similar to that in the original DFNA5 family in terms of pure-tone thresholds, but with more favourable speech recognition.

© 2004 S. Karger AG, Basel



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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: December 09, 2002
Accepted: July 03, 2003
Published online: December 19, 2003
Issue release date: January – February

Number of Print Pages: 13
Number of Figures: 8
Number of Tables: 1

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

For additional information: https://www.karger.com/AUD

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