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Table of Contents
Vol. 16, No. 2, 2011
Issue release date: January 2011
Section title: Original Paper
Audiol Neurotol 2011;16:93–105
(DOI:10.1159/000313282)

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

de Heer A.-M.R.a · Collin R.W.J.a, b, d · Huygen P.L.M.a · Schraders M.a, c, d · Oostrik J.a · Rouwette M.b · Kunst H.P.M.a · Kremer H.a, c, d · Cremers C.W.R.J.a, c
Departments of aOtorhinolaryngology and bHuman Genetics, Radboud University Nijmegen Medical Centre, and cDonders Institute for Brain Cognition and Behaviour and dNijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 07, 2009
Accepted: March 30, 2010
Published online: June 26, 2010
Issue release date: January 2011

Number of Print Pages: 13
Number of Figures: 6
Number of Tables: 1

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

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

Abstract

In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A→G) segregating with the hearing loss in this family. One of the 6 transmembrane domains and the actual TMC channel domain are predicted to be absent in the mutant protein. The sensorineural hearing impairment in this DFNB7/11 family has a postlingual onset. Audiometric analysis initially showed a steeply downward-sloping threshold configuration. The progressive phenotype in this family resembles the phenotype previously described for families with dominant TMC1 mutations (DFNA36) rather than that of families with recessive TMC1 mutations (DFNB7/11) which invariably cause severe-to-profound prelingual hearing impairment.

© 2010 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 07, 2009
Accepted: March 30, 2010
Published online: June 26, 2010
Issue release date: January 2011

Number of Print Pages: 13
Number of Figures: 6
Number of Tables: 1

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

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


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