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Genes, Hearing, and Deafness : from Molecular Biology to Clinical Practice

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Genes, Hearing, and Deafness : from Molecular Biology to Clinical Practice 1181 FM 4/4/07 4:16 PM Page i Genes, Hearing, and Deafness From Molecular Biology to Clinical Practice Edited by Alessandro Martini Audiology and ENT Clinical Institute University of Ferrara Ferrara Italy Dafydd Stephens School of Medicine Cardiff University Cardiff Wales Andrew P Read Department of Medical Genetics St Mary’s Hospital Manchester UK 1181 FM 4/4/07 4:16 PM Page ii © 2007 Informa UK Ltd First published in the United Kingdom in 2007 by Informa Healthcare, Telephone House, 69–77 Paul Street, London EC2A 4LQ. Informa Healthcare is a trading division of Informa UK Ltd. Registered Office: 37/41 Mortimer Street, London W1T 3JH. Registered in England and Wales number 1072954. Tel: +44 (0)20 7017 6000 Fax: +44 (0)20 7017 6699 Website: www.informahealthcare.com All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior permission of the publisher or in accordance with the provisions of the Copyright, Designs and Patents Act 1988 or under the terms of any licence permitting limited copying issued by the Copyright Licensing Agency, 90 Tottenham Court Road, London W1P 0LP. Although every effort has been made to ensure that all owners of copyright material have been acknowledged in this publication, we would be glad to acknowledge in subsequent reprints or seditions any omissions brought to our attention. Although every effort has been made to ensure that drug doses and other information are presented accurately in this publication, the ultimate responsibility rests with the prescribing physician. Neither the publishers nor the authors can be held responsible for errors or for any consequences arising from the use of information contained herein. For detailed prescribing information or instructions on the use of any product or procedure discussed herein, please consult the prescribing information or instructional material issued by the manufacturer. A CIP record for this book is available from the British Library. Library of Congress Cataloging-in-Publication Data Data available on application ISBN-10: 0 415 38359 5 ISBN-13: 978 0 415 38359 2 Distributed in North and South America by Taylor & Francis 6000 Broken Sound Parkway, NW, (Suite 300) Boca Raton, FL 33487, USA Within Continental USA Tel: 1 (800) 272 7737; Fax: 1 (800) 374 3401 Outside Continental USA Tel: (561) 994 0555; Fax: (561) 361 6018 Email: [email protected] Distributed in the rest of the world by Thomson Publishing Services Cheriton House North Way Andover, Hampshire SP10 5BE, UK Tel: +44 (0)1264 332424 Email: [email protected] Composition by Egerton + Techset. Printed and bound in India by Replika Press Pvt Ltd. 1181 FM 4/4/07 4:16 PM Page iii Contents List of contributors v Preface ix PART I: GENETICS AND HEARING IMPAIRMENT 1 Understanding the genotype: basic concepts 3 Andrew P Read 2 Understanding the phenotype: basic concepts in audiology 19 Silvano Prosser, Alessandro Martini 3 Newly emerging concepts in syndromology relevant to audiology 39 and otolaryngology practice William Reardon 4 Deafblindness 55 Claes Möller 5 Nonsyndromic hearing loss: cracking the cochlear code 63 Rikkert L Snoeckx, Guy Van Camp 6 Age-related hearing impairment: ensemble playing of environmental and genetic factors 79 Lut Van Laer, Guy Van Camp 7 Noise-related hearing impairment 91 Ilmari Pyykkö, Esko Toppila, Jing Zou, Howard T Jacobs, Erna Kentala 8 Otosclerosis: a genetic update 111 Frank Declau, Paul Van De Heyning 9 Mitochondrial DNA, hearing impairment, and ageing 121 Kia Minkkinen, Howard T Jacobs PART II: CURRENT MANAGEMENT 10 Psychosocial aspects of genetic hearing impairment 145 Dafydd Stephens 11 Attitudes of deaf people and their families towards issues surrounding genetics 163 Anna Middleton 12 Genetics of communication disorders 173 Elisabetta Genovese, Rosalia Galizia, Rosamaria Santarelli, Edoardo Arslan 13 Audiometric profiles associated with genetic nonsyndromal hearing 185 impairment: a review and phenotype analysis Patrick L M Huygen, Robert Jan Pauw, Cor W R J Cremers 14 Early detection and assessment of genetic childhood hearing impairment 205 Agnete Parving 1181 FM 4/4/07 4:16 PM Page iv iv Contents 15 What genetic testing can offer 213 Paolo Gasparini, Andrew P Read 16 Pharmacotherapy of the inner ear 219 Ilmari Pyykkö, Esko Toppila, Jing Zou, Erna Kentala 17 Diagnosis and management strategies in congenital middle and external ear anomalies 239 Frank Declau, Paul Van De Heyning 18 Cochlear implantation in genetic deafness 253 Richard Ramsden, Shakeel Saeed, Rhini Aggarwal 19 Auditory neuropathy caused by the otoferlin gene mutation 263 Constantino Morera, Laura Cavallé, Diego Collado, Felipe Moreno PART III: THE FUTURE 20 Innovative therapeutical strategies to prevent deafness and to treat tinnitus 271 Jian Wang, Matthieu Guitton, Jérôme Ruel, Rémy Pujol, Jean-Luc Puel 21 Stem cells in the inner ear: advancing towards a new therapy for hearing impairment 279 Marcelo N Rivolta 22 Tissue transplantation into the inner ear 289 Mats Ulfendahl 23 Gene therapy of the inner ear 299 M Pfister, A K Lalwani 24 Mechanisms for hair cell protection and regeneration in the mammalian organ of Corti 305 Sara Euteneuer, Allen F Ryan Index 313 1181 FM 4/4/07 4:16 PM Page v Contributors Rhini Aggarwal Paolo Gasparini Department of Otolaryngology Medical Genetics Manchester Royal Infirmary Department of Reproductive Sciences and Development Manchester UK University of Trieste Trieste Italy Edoardo Arslan Department of Audiology and Phoniatrics Elisabetta Genovese University of Padova Department of Audiology and Phoniatrics Padova Italy University of Padova Padova Italy Laura Cavallé Matthieu Guitton Department of Otorhinolaryngology INSERM, U583 University Hospital La Fe Laboratoire de Physiopathólogie et Thérapie des Déficits Valencia Spain Sensoriels et Moteurs Montpellier France Diego Collado Department of Otorhinolaryngology Patrick L M Huygen University Hospital La Fe Department of Otolaryngology Valencia Spain Radboud University Medical Center Nijmegen The Netherlands Cor W R J Cremers Department of Otolaryngology Howard T Jacobs Radboud University Medical Center Institute of Medical Technology Nijmegen The Netherlands University of Tampere Tampere Finland Frank Declau Department of Otorhinolaryngology, Erna Kentala Head and Neck Surgery and Department of Otolaryngology Communication Disorders University of Helsinki University of Antwerp Helsinki Finland Antwerp Belgium A K Lalwani Sara Euteneuer Department of Otolaryngology and Head and Neck Surgery Department of Surgery/Otolaryngology University of Tübingen University of California San Diego (UCSD) Tübingen Germany School of Medicine La Jolla CA USA Alessandro Martini Department of Otorhinolaryngology Audiology and ENT Clinical Institute St. Elisabeth-Hospital University of Ferrara Ruhr-University Boschum School of Medicine Ferrara Italy Bochum Germany Anna Middleton Rosalia Galizia Institute of Medical Genetics Department of Audiology and Phoniatrics School of Medicine University of Padova Cardiff University Padova Italy Cardiff Wales 1181 FM 4/4/07 4:16 PM Page vi vi List of contributors Kia Minkkinen Rémy Pujol Institute of Medical Technology INSERM, U583 University of Tampere Laboratoire de Physiopathólogie et Thérapie des Déficits Tampere Finland Sensoriels et Moteurs UMR-S583 Université Montpellier Claes Möller Montpellier France Department of Audiology The Swedish Institute of Disability Research – Orelro University Hospital Ilmari Pyykkö – Orelro Sweden Department of Otolaryngology University of Tampere Tampere Finland Felipe Moreno Institute of Molecular Genetics Hospital Ramon y Cajal Richard Ramsden Madrid Spain Department of Otolaryngology Manchester Royal Infirmary Manchester UK Constantino Morera Department of Otorhinolaryngology University Hospital La Fe Andrew P Read Valencia Spain Department of Medical Genetics St Mary’s Hospital Manchester UK Agnete Parving Department of Audiology HS Bispebjerg Hospital William Reardon Copenhagen Denmark Our Lady’s Hospital for Sick Children Dublin Ireland Robert Jan Pauw Department of Otolaryngology Marcelo N Rivolta Radboud University Medical Center Centre for Stem Cell Biology Nijmegen The Netherlands Department of Biomedical Sciences University of Sheffield Sheffield UK Markus Pfister Department of Otolaryngology and Head and Neck Surgery Jérôme Ruel University of Tübingen INSERM, U583 Tübingen Germany Laboratoire de Physiopathólogie et Thérapie des Déficits Sensoriels et Moteurs Montpellier France Silvano Prosser Audiology Unit and ENT Clinical Institute University of Ferrara Allen F Ryan Ferrara Italy Department of Surgery/Otolaryngology and Neuroscience University of California San Diego (UCSD) Jean-Luc Puel School of Medicine INSERM, U583 La Jolla CA USA Laboratoire de Physiopathólogie et Thérapie des Déficits Sensoriels et Moteurs Shakeel Saeed UMR-S583 Department of Otolaryngology Université Montpellier Manchester Royal Infirmary Montpellier France Manchester UK 1181 FM 4/4/07 4:16 PM Page vii List of contributors vii Rosamaria Santarelli Guy Van Camp Department of Audiology and Phoniatrics Department of Medical Genetics University of Padova University of Antwerp Padova Italy Antwerp Belgium Rikkert L Snoeckx Paul Van De Heyning Department of Otorhinolaryngology, Head and Department of Medical Genetics Neck Surgery and Communication Disorders University of Antwerp University of Antwerp
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