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Genes, Hearing, and Deafness: From Molecular Biology to Clinical Practice PDF

328 Pages·2007·5.89 MB·English
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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, ortransmitted, in any formor 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 CopyrightLicensing 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 beglad 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 ultimateresponsibility rests with the prescribing physician. Neither the publishers nor the authors can be held responsible for errors or for anyconsequences 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 Elisabetta Genovese Department of Audiology and Phoniatrics Department of Audiology and Phoniatrics University of Padova University of Padova Padova Italy 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 Erna Kentala Department of Otorhinolaryngology, Department of Otolaryngology Head and Neck Surgery and University of Helsinki Communication Disorders Helsinki Finland University of Antwerp Antwerp Belgium A K Lalwani Department of Otolaryngology and Sara Euteneuer 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 Paul Van De Heyning Rikkert L Snoeckx Department of Otorhinolaryngology, Head and Department of Medical Genetics Neck Surgery and Communication Disorders University of Antwerp University of Antwerp Antwerp Belgium Antwerp Belgium Dafydd Stephens Lut Van Laer School of Medicine Department of Medical Genetics Cardiff University University of Antwerp Cardiff Wales Antwerp Belgium Jian Wang Esko Toppila INSERM, U583 Institute of Occupational Health Laboratoire de Physiopathólogie et hérapie des Déficits Helsinki Finland Sensoriels et Moteurs Montpellier France Mats Ulfendahl Center for Hearing and Jing Zou Communication Research Department of Otolaryngology Karolinska Institutet University of Tampere Stockholm Sweden Tampere Finland 1181 FM 4/4/07 4:16 PM Page viii 1181 FM 4/4/07 4:16 PM Page ix Preface Frequently, hearing impairment has been considered to require loci mapped reflect a heterogeneous set of genes and mecha- no more than the provision of a hearing aid, with little under- nisms responsible for human hearing and suggest a complicated standing of the need for thorough aetiological investigation to interaction between these genes (Lalwani and Castelein, 1999). ensure prevention and remediation where possible and struc- GENDEAF European Union Thematic Network Project tured rehabilitation programmes, if the distressing personal and 2001–2005 has helped to further open and widen the analysis of social consequences of hearing impairment are to be avoided. genotype/phenotype correlations, the effects of deafness on the It is worth pointing out that one in every 1,000 new-born family and the psychosocial aspects (also involving patient babies suffers from congenital severe or profound hearing impair- associations). ment. Furthermore, epidemiological studies demonstrate that the percentage of the population who have a hearing impair- This book is aimed as a follow up of these two projects. It ment that exceeds 45dB HL and 65dB HL are about 1.3% and endeavours to provide a broad and up to date overview of 0.3% between the ages of 30 and 50 years, and 7.4% and 2.3% genetic hearing impairment for audiologists, otolaryngologists, between the ages of 60 and 70 years, respectively (Davis, 1989). paediatricians and clinical geneticists to improve the quality of Hearing loss has for some time, been considered a permanent care for the large group of patients with suspected genetic hear- effect and consequence of factors such as infections, ototoxicity, ing impairment. It does not set out to be a comprehensive trauma and ageing. In recent years, molecular biology and description of syndromes such as the excellent and complete molecular genetics have made a key contribution to the under- text of Toriello, Reardon, and Gorlin (2004), but to provide an standing of the normal and defective inner ear, not only in easily read sourcebook for those students and clinicians with an congenital profound hearing impairment but also in late interest in this field. onset/progressive hearing impairment. The book is divided into three parts: The first part reports the important elements of current knowledge of the various situations in which genes have an influence on inner ear dysfunction. Chapters 1 and 2 provide The HEAR and GENDEAF projects the reader with an appropriate background, presenting an intro- duction to auditory function, basic genetics and genetic tech- In September 1994, when a Preparatory Workshop for the niques significant to this field. Chapter 3 does not list the Constitution of a European study group on genetic deafness was various syndromes, but intends to discuss and help clinicians to held in Milan, only four loci of non-syndromal hearing impair- interpret the signs in order to better understand how molecular ment and only three genes responsible for syndromal hearing genetics can be informative. Chapter 4 tackles the complex impairment had been discovered, whereas at the time of writ- genetic aspect of deaf/blindness. Chapter 5 analyses the role of ing, some 45 genes which can cause non-syndromal hearing the various genes as a causative of non-syndromal hearing loss. impairment have been identifies and over 110 loci found. Chapters 6 to 9 analyse the responsibility of genetic factors The importance of establishing common terminology and in certain complex situations such as ageing, noise exposure, definitions and co-ordinating the multi-disciplinary approach ototoxic drugs and otosclerosis. was the core aim of HEAR project-European Concerted Action Part II discusses current approaches to and management of HEAR (Hereditary Deafness: Epidemiology and Clinical hearing impairment in different ways. Thus Chapters 10 and 11 Research 1996–1999). The idea was to deal with the problem of review the psychosocial impact of genetic hearing impairment combining clinical in-depth family and phenotype studies with and how culturally Deaf people react to genetic interventions. basic molecular genetics and gene mapping methods in a more Chapter 12 looks at the related area of genetic factors in speech standardized way, with the aim of establishing a stable interna- and language while Chapters 13 to 15 provide guidance on the tional collaboration. The initiative also wanted to create a bank identification of specific genotypes from phenotypic informa- of updated information on these disorders that would be useful tion, steps which should be taken in this respect in deaf children not only to experts but to the entire scientific community in and how geneticists approach such a challenge. Developments identifying sources of information and specialized centres to in the pharmacological approach to hearing impairment and which specific cases may be referred. This project stimulated a tinnitus are covered in Chapters 16 and 20, while Chapters 17 considerable amount of work in this field leading to develop- to 19 discuss the medical and surgical management of specific ments in molecular genetics and the mapping of human loci genetic disorders affecting the outer/middle ear, the cochlea and associated with hearing disorders. The numerous and scattered the cochlear nerve respectively.

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