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Table of Contents
Vol. 9, No. 1, 2004
Issue release date: January–February 2004
Section title: Original Paper
Audiol Neurootol 2004;9:34–46
(DOI:10.1159/000074185)

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

Bischoff A.M.L.C. · Luijendijk M.W.J. · Huygen P.L.M. · van Duijnhoven G. · De Leenheer E.M.R. · Oudesluijs G.G. · van Laer L. · Cremers F.P.M. · Cremers C.W.R.J. · Kremer H.
Departments of aOtorhinolaryngology and bHuman Genetics, University Medical Centre Nijmegen, Nijmegen, TheNetherlands; cDepartment of Medical Genetics, University of Antwerp, Belgium

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 12/9/2002
Accepted: 7/3/2003
Published online: 12/19/2003

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

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

For additional information: http://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.


  

Author Contacts

A.M.L.C. Bischoff
Department of Otorhinolaryngology, UMCN
Internal postal code 811, PO Box 9101
NL–6500 HB Nijmegen (The Netherlands)
Tel. +31 24 361 44 50, Fax +31 24 354 02 51, E-Mail a.bischoff@kno.umcn.nl

  

Article Information

A.M.L.C.B. and M.W.J.L. contributed equally to this work.

Received: December 9, 2002
Accepted after revision: July 3, 2003
Number of Print Pages : 13
Number of Figures : 8, Number of Tables : 1, Number of References : 35

  

Publication Details

Audiology & Neuro-Otology (Basic Research and Clinical Applications)

Vol. 9, No. 1, Year 2004 (Cover Date: January-February 2004)

Journal Editor: Manfried Hoke, Münster, Germany
ISSN: 1420–3030 (print), 1421–9700 (Online)

For additional information: http://www.karger.com/aud


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 12/9/2002
Accepted: 7/3/2003
Published online: 12/19/2003

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

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

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


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