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ENT Specialists Remedica Genetics Series P480_Genetics_ENT_Cover2.qxd 1/2/05 11:03 Page 1 Genetics for ENT Specialists Remedica genetics series Approximately 1 in 1,000 children is born with a severe hearing impairment; the cause is inherited in at least half of these cases… It is becoming possible to make a genetic diagnosis based on molecular tests in an increasing number of ENT disorders. In particular, considerable progress has been made in our understanding of the molecular genetics of hereditary sensorineural hearing impairment. Genetics for ENT Specialists offers practitioners a concise overview of advances in this important field of medicine, and will facilitate the improved management of patients with ENT disorders in daily practice. In addition, diagnostic tables and an extensive genetics glossary provide the reader with useful summaries of important information. Contents Inherited diseases in otology • Inherited syndromic hearing impairment • OXPHOS deficiencies • Inherited diseases in rhinology • Miscellaneous Dirk Kunst, Hannie Cor Cremers Kremer, (including velocardiofacial syndrome, laryngeal paralysis, Opitz syndrome, and more) Genetics for Praise for the Genetics for… series “An outstanding reference and educational tool.” Jeffrey C Wang, Chief, Spine Service, UCLA Department of Orthopedic Surgery ENT Specialists (Genetics for Orthopedic Surgeons) “A very concise and easy way to look up the background for that difficult syndrome, and then to turn to the glossary to learn what it means!” Simon Davies, Consultant Cardiologist in Cardiology News (Genetics for Cardiologists) “An excellent reference book for any health care practitioner who wishes to incorporate molecular genetics into the management of his or her patients. I wholeheartedly recommend it both as an educational and reference tool.” Dirk Kunst Andrew Lotery, Assistant Professor of Ophthalmology, Hannie Kremer University of Iowa (Genetics for Ophthalmologists) Cor Cremers ISBN 1-901346-64-1 Series Editor Eli Hatchwell 9 781901346640 P480 ENT Complete3.qxd 1/2/05 10:12 Page a Genetics for ENT Specialists P480 ENT Complete3.qxd 1/2/05 10:12 Page b The Remedica Genetics for… Series Genetics for Cardiologists Genetics for Dermatologists Genetics for Endocrinologists Genetics for ENT Specialists Genetics for Hematologists Genetics for Oncologists Genetics for Ophthalmologists Genetics for Orthopedic Surgeons Genetics for Pediatricians Genetics for Pulmonologists Genetics for Rheumatologists Genetics for Surgeons Published by Remedica 32–38 Osnaburgh Street, London, NW1 3ND, UK 20 North Wacker Drive, Suite 1642, Chicago, IL 60606, USA Email: [email protected] www.remedicabooks.com Publisher: Andrew Ward In-house editor: Cath Harris Design and Artwork: AS&K Skylight © 2005 Remedica While every effort is made by the publisher to see that no inaccurate or misleading data, opinions, or statements appear in this book, they wish to make it clear that the material contained in the publication represents a summary of the independent evaluations and opinions of the authors. As a consequence, the authors, publisher, and any sponsoring company accept no responsibility for the consequences of any inaccurate or misleading data or statements. Neither do they endorse the content of the publication or the use of any drug or device in a way that lies outside its current licensed application in any territory. 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. Remedica is a member of the AS&K Media Partnership ISBN 1 901346 64 1 ISSN 1472 4618 British Library Cataloguing in-Publication Data A catalogue record for this book is available from the British Library P480 ENT Complete3.qxd 1/2/05 10:12 Page c Genetics for ENT Specialists Dirk Kunst, Hannie Kremer, and Cor Cremers University Medical Centre Nijmegen, The Netherlands Series Editor Eli Hatchwell Investigator Cold Spring Harbor Laboratory P480 ENT Complete3.qxd 1/2/05 10:12 Page d P480 ENT Complete3.qxd 1/2/05 10:12 Page e Introduction to the Genetics for… series Medicine is changing. The revolution in molecular genetics has fundamentally altered our notions of disease etiology and classification, and promises novel therapeutic interventions. Standard diagnostic approaches to disease focused entirely on clinical features and relatively crude clinical diagnostic tests. Little account was traditionally taken of possible familial influences in disease. The rapidity of the genetics revolution has left many physicians behind, particularly those whose medical education largely preceded its birth. Even for those who might have been aware of molecular genetics and its possible impact, the field was often viewed as highly specialist and not necessarily relevant to everyday clinical practice. Furthermore, while genetic disorders were viewed as representing a small minority of the total clinical load, it is now becoming clear that the opposite is true: few clinical conditions are totally without some genetic influence. The physician will soon need to be as familiar with genetic testing as he/she is with routine hematology and biochemistry analysis. While rapid and routine testing in molecular genetics is still an evolving field, in many situations such tests are already routine and represent essential adjuncts to clinical diagnosis (a good example is cystic fibrosis). This series of monographs is intended to bring specialists up to date in molecular genetics, both generally and also in very specific ways that are relevant to the given specialty. The aims are generally two-fold: (i) to set the relevant specialty in the context of the new genetics in general and more specifically (ii) to allow the specialist, with little experience of genetics or its nomenclature, an entry into the world of genetic testing as it pertains to his/her specialty These monographs are not intended as comprehensive accounts of each specialty — such reference texts are already available. Emphasis has been placed on those disorders with a strong genetic etiology and, in particular, those for which diagnostic testing is available. Genetics for ENT Specialists P480 ENT Complete3.qxd 1/2/05 10:12 Page f The glossary is designed as a general introduction to molecular genetics and its language. The revolution in genetics has been paralleled in recent years by the information revolution. The two complement each other, and the World Wide Web is a rich source of information about genetics. The following sites are highly recommended as sources of information: 1. PubMed. Free on-line database of medical literature. http://www.ncbi.nlm.nih.gov/PubMed/ 2. NCBI. Main entry to genome databases and other information about the human genome project. http://www.ncbi.nlm.nih.gov/ 3. OMIM. On line inheritance in Man. The On-line version of McKusick’s catalogue of Mendelian Disorders. Excellent links to PubMed and other databases. http://www.ncbi.nlm.nih.gov/omim/ 4. Mutation database, Cardiff. http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html 5. National Coalition for Health Professional Education in Genetics. An organization designed to prepare health professionals for the genomics revolution. http://www.nchpeg.org/ 6. Finally, a series of articles from the New England Journal of Medicine, entitled Genomic Medicine, has been made available free of charge on their website. http://www.nejm.org/ Eli Hatchwell Cold Spring Harbor Laboratory Genetics for ENT Specialists P480 ENT Complete3.qxd 1/2/05 10:12 Page g Preface The most prevalent genetic diseases in the field of otorhinolaryngology are associated with sensorineural hearing impairment (SNHI) or concern nonsyndromic types of inner-ear hearing impairment. Indeed, the prevalence of SNHI competes with that of the most common chronic diseases. The first insight that hearing impairment could be inherited appeared in the second edition of Politzer’s Lehrbuch der Ohrenheilkunde, published in 1887. Direct or dominant inheritance was distinguished from indirect or recessive inheritance. Politzer based his conclusions on the work of another German author, Hartmann (1880). Prior to this, Wilde (1853), Liebreich (1861), and Uchermann (1869) had all found evidence that hearing impairment could be hereditary. In the same century, syndromes in which hearing impairment was a main feature were first described. Examples included Usher syndrome, branchio-oto- renal syndrome, Pendred syndrome, Treacher Collins’ syndrome, and osteogenesis imperfecta tarda. Although the majority of hereditary hearing impairments are nonsyndromic, most early attention was paid to syndromic hearing disorders because these can be differentiated clinically on the basis of their associated characteristics. With the introduction of the audiometer in the late 1930s, however, it became easier to describe and differentiate nonsyndromic forms of hearing impairment. Nevertheless, descriptions of families with nonsyndromic autosomal dominant hearing impairment were not published until the 1950s. Similarly, congenital forms of hearing impairment have received more attention than late- onset hearing impairments. The textbooks The Causes of Profound Childhood Deafness by George Fraser (1976) and Genetic and Metabolic Deafness by Konigsmark and Gorlin (first published in 1976) illustrate the steady increase in knowledge regarding hereditary syndromes with hearing impairment. Genetics for ENT Specialists focuses on otorhinolaryngologic
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