Medical Genetics in the Clinical Practice of ORL

Medical Genetics in the Clinical Practice of ORL

Advances in Oto-Rhino-Laryngology Vol. 70 Series Editors W. Arnold Munich G. Randolph Boston, Mass.

Medical Genetics in the Clinical Practice of ORL Volume Editors Raye L. Alford Houston, Tex. V. Reid Sutton Houston, Tex. 11 figures, 2 in color and 20 tables, 2011 Basel Freiburg Paris London New York Bangalore Bangkok Shanghai Singapore Tokyo Sydney

Raye L. Alford Bobby R. Alford Department of Otolaryngology Head and Neck Surgery Baylor College of Medicine One Baylor Plaza, NA102 Houston, TX 77030 (USA) V. Reid Sutton Texas Children s Hospital 6701 Fannin St., Suite 1560.10 Houston, TX 77030 (USA) Library of Congress Cataloging-in-Publication Data Medical genetics in the clinical practice of ORL / volume editors, Raye L. Alford, V. Reid Sutton. p. ; cm. -- (Advances in oto-rhino-laryngology, ISSN 0065-3071 ; vol. 70) Includes bibliographical references and indexes. ISBN 978-3-8055-9668-8 (hard cover : alk. paper) -- ISBN 978-3-8055-9669-5 (e-isbn) 1. Otolaryngology--Genetic aspects. I. Alford, Raye L. II. Sutton, V. Reid. III. Series: Advances in oto-rhino-laryngology ; v. 70. 0065-3071 [DNLM: 1. Otorhinolaryngologic Diseases--genetics. 2. Gene Therapy--trends. W1 AD701 v.70 2011 / WV 140] RF46.M43 2011 617.7'524--dc22 2010054257 Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents. Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Copyright 2011 by S. Karger AG, P.O. Box, CH 4009 Basel (Switzerland) www.karger.com Printed in Switzerland on acid-free and non-aging paper (ISO 9706) by Reinhardt Druck, Basel ISSN 0065 3071 ISBN 978 3 8055 9668 8 e-isbn 978 3 8055 9669 5

Contents VII Preface Alford, R.L.; Sutton, V.R. (Houston, Tex.) 1 Genetic Basis of Conditions Commonly Seen in ORL Practice Friedmann, D.R.; Lalwani, A.K. (New York, N.Y.) 10 Basic Medical Genetics for the Otolaryngologist Alford, R.L.; Darilek, S.A. (Houston, Tex.) 18 Ordering Genetic Tests and Interpreting the Results Deignan, J.L.; Grody, W.W. (Los Angeles, Calif.) 25 Referring Patients for a Medical Genetics Consultation and Genetic Counseling Sutton, V.R. (Houston, Tex.) 28 Towards an Etiologic Diagnosis: Assessing the Patient with Hearing Loss Lin, J. (Houston, Tex.); Oghalai, J.S. (Palo Alto, Calif.) 37 Nonsyndromic Hereditary Hearing Loss Alford, R.L. (Houston, Tex.) 43 Hereditary Hearing Loss with Thyroid Abnormalities Choi, B.Y.; Muskett, J.; King, K.A.; Zalewski, C.K. (Rockville, Md.); Shawker, T.; Reynolds, J.C.; Butman, J.A. (Bethesda, Md.); Brewer, C.C. (Rockville, Md.); Stewart, A.K.; Alper, S.L. (Boston, Mass.); Griffith, A.J. (Rockville, Md.) 50 Pigmentary Anomalies and Hearing Loss Toriello, H.V. (Grand Rapids, Mich.) 56 Usher Syndrome: Hearing Loss with Vision Loss Friedman, T.B.; Schultz, J.M. (Rockville, Md.); Ahmed, Z.M. (Cincinnati, Ohio); Tsilou, E.T.; Brewer, C.C. (Rockville, Md.) 66 Genetic Disorders with both Hearing Loss and Cardiovascular Abnormalities Belmont, J.W.; Craigen, W.J.; Martinez, H.; Jefferies, J.L. (Houston, Tex.) 75 Hearing Loss Disorders Associated with Renal Disease Kimberling, W.J. (Omaha, Nebr./Iowa City, Iowa); Borsa, N. (Milan); Smith, R.J.H. (Iowa City, Iowa) 84 Multiple Endocrine Neoplasia: Types 1 and 2 Marsh, D.J. (St. Leonards, N.S.W.); Gimm, O. (Linköping) 91 Neurofibromatosis Type 2 Evans, D.G.R.; Lloyd, S.K.W.; Ramsden, R.T. (Manchester) V

99 Hereditary Paragangliomas Raygada, M. (Bethesda, Md.); Pasini, B. (Turin); Stratakis, C.A. (Bethesda, Md.) 107 Genetic Causes of Nonsyndromic Cleft Lip with or without Cleft Palate Yuan, Q. (Houston, Tex.); Blanton, S.H. (Miami, Fla.); Hecht, J.T. (Houston, Tex.) 114 Chronic Rhinosinusitis Wang, X. (Bethesda, Md.); Cutting, G.R. (Baltimore, Md.) 122 Otosclerosis Ealy, M.; Smith, R.J.H. (Iowa City, Iowa) 130 Genetics of Vestibulopathies Jen, J.C. (Los Angeles, Calif.) 135 Genetics of Otitis Media Post, J.C. (Pittsburgh, Pa.) 141 Gene Therapy for Head and Neck Cancer Abuzeid, W.M. (Ann Arbor, Mich.); Li, D.; O Malley Jr., B.W. (Philadelphia, Pa.) 152 Author Index 153 Subject Index VI Contents

Preface The sequencing of the human genome, completed in 2003, laid the foundation for great advances in scientific knowledge and molecular and informational technologies. Because of the Human Genome Project, which took 20 centers around the world over 5 years to complete at a cost of USD 2.7 billion, an individual s entire genome (all their genetic information) can today be sequenced for less than USD 10,000. The cost of whole genome sequencing and our understanding of the genome will continue to change exponentially, and individuals may soon have their whole genome sequenced as part of routine medical care. There is almost no part of the clinical practice of otorhinolaryngology that is not touched by genetics. It has long been recognized that an immense number of genetic syndromes include hearing loss, craniofacial abnormalities, cochlear malformations, cleft lip/palate, and tumors of the head and neck. In recent years, the genetic causes of many of these syndromes and a number of other conditions including nonsyndromic hearing loss and chronic rhinosinusitis have been elucidated, resulting in an improved understanding of the developmental and biochemical processes involved, allowing the development of genetic tests to aid in diagnosis and risk assessment, and suggesting novel approaches for therapeutic intervention. This book is written as a practical guide to medical genetics as it applies to the clinical practice of otorhinolaryngology. It describes recent advances in understanding the genetics of diseases of the head and neck, introduces emerging knowledge and trends, and provides resources that empower clinicians to incorporate genetics into clinical practice, thereby improving patient care. Raye L. Alford, Houston, Tex. V. Reid Sutton, Houston, Tex. VII