Emery and Rimoin’s Essential Medical Genetics PDF
Preview Emery and Rimoin’s Essential Medical Genetics
Emery and Rimoin’s Essential Medical Genetics This page intentionally left blank Emery and Rimoin’s Essential Medical Genetics Edited by David L Rimoin† Steven Spielberg Chair & Director, Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA Reed E Pyeritz William Smilow Professor of Medicine, Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA Bruce R Korf Wayne H and Sara Crews Finley Chair in Medical Genetics, Professor and Chair, Department of Genetics and Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, AL, USA AMSTERDAM • BOSTON • HEIDELBERG • LONDON • NEW YORK OXFORD • PARIS • SAN DIEGO • SAN FRANCISCO • SINGAPORE SYDNEY • TOKYO Academic Press is an imprint of Elsevier Academic Press is an imprint of Elsevier The Boulevard, Langford Lane, Kidlington, Oxford, OX5 1GB, UK 225 Wyman Street, Waltham, MA 02451, USA Copyright © 2013 Elsevier Ltd. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangement with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein). Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library Library of Congress Cataloging in Publication Data A catalog record for this book is available from the Library of Congress ISBN: 978-0-12-407240-4 For information on all Academic Press publications visit our website at store.elsevier.com Printed and bound in Italy 13 14 15 16 10 9 8 7 6 5 4 3 2 1 C O N T E N T S Preface, xv Foreword, xvii Personal memories of David Rimoin, xix Basic Principles 1 History of Medical Genetics, 3 Victor A McKusick and Peter S Harper 2 Medicine in a Genetic Context, 9 Barton Childs and Reed E Pyeritz 3 Nature and Frequency of Genetic Disease, 12 Bruce R Korf, David L Rimoin, and Reed E Pyeritz 4 Genomics and Proteomics, 15 Raju Kucherlapati 5 Genome and Gene Structure, 16 Daniel H Cohn 6 Epigenetics, 17 Rosanna Weksberg, Darci T Butcher, Daria Grafodatskaya, Sanaa Choufani, and Benjamin Tycko 7 H uman Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences, 22 Stylianos E Antonarakis and David N Cooper 8 Genes in Families, 25 Jackie Cook 9 Analysis of Genetic Linkage, 28 Rita M Cantor 10 Chromosomal Basis of Inheritance, 30 M Fady Mikhail 11 Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging, 35 Douglas C Wallace, Marie T Lott, and Vincent Procaccio 12 Multifactorial Inheritance and Complex Diseases, 38 Christine W Duarte, Laura K Vaughan, T Mark Beasley, and Hemant K Tiwari 13 Population Genetics, 41 Bronya J B Keats and Stephanie L Sherman 14 Pathogenetics of Disease, 43 Reed E Pyeritz 15 Human Developmental Genetics, 47 Wen-Hann Tan, Edward C Gilmore, and Hagit N Baris 16 Twins and Twinning, 53 Jodie N Painter, Sarah J Medland, Grant W Montgomery, and Judith G Hall v vi CONTENTS 17 The Molecular Biology of Cancer, 58 Edward S Tobias 18 The Biological Basis of Aging: Implications for Medical Genetics, 60 Junko Oshima, George M Martin, and Fuki M Hisama 19 Pharmacogenetics and Pharmacogenomics, 63 Daniel W Nebert and Elliot S Vesell General Principles 20 Genetic Evaluation for Common Diseases of Adulthood, 69 Maren T Scheuner and Shannon Rhodes 21 Genetic Counseling and Clinical Risk Assessment, 74 R Lynn Holt and Angela Trepanier 22 Cytogenetic Analysis, 76 Nancy B Spinner, Malcolm A Ferguson-Smith, and David H Ledbetter 23 Diagnostic Molecular Genetics, 78 Wayne W Grody and Joshua L Deignan 24 Heterozygote Testing and Carrier Screening, 80 Matthew J McGinniss and Michael M Kaback 25 Prenatal Screening for Neural Tube Defects and Aneuploidy, 82 Amelia L M Sutton and Joseph R Biggio 26 Techniques for Prenatal Diagnosis, 85 Lee P Shulman and Sherman Elias 27 Neonatal Screening, 89 Richard W Erbe and Harvey L Levy 28 Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease, 91 Robert J Desnick, Edward H Schuchman, Kenneth H Astrin, and Seng H Cheng 29 Gene Therapy: From Theoretical Potential to Clinical Implementation, 93 Nicholas S R Sauderson, Maria G Castro, and Pedro R Lowenstein 30 Ethical and Social Issues in Clinical Genetics, 95 Angus John Clarke 31 Legal Issues in Genetic Medicine, 100 Philip R Reilly Applications to Clinical Problems 32 Genetics of Female Infertility in Humans, 105 Bala Bhagavath and Lawrence C Layman 33 Genetics of Male Infertility, 108 Csilla Krausz, Chiara Chianese, Ronald S Swerdloff, and Christina Wang 34 Fetal Loss, 113 Rhona Schreck and John Williams III 35 A Clinical Approach to the Dysmorphic Child, 117 Kenneth L Jones and Marilyn C Jones CONTENTS vii 36 Clinical Teratology, 120 Jan M Friedman and James W Hanson 37 Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism, 124 John B Moeschler 38 Abnormal Body Size and Proportion, 131 John M Graham, Deepika D’Cunha Burkardt, and David L Rimoin 39 Susceptibility and Response to Infection, 138 Michael F Murray 40 Transplantation Genetics, 141 Steven Ringquist, Ying Lu, Massimo Trucco, and Gaia Bellone 41 The Genetics of Disorders Affecting the Premature Newborn, 144 Aaron Prosnitz, Jeffrey R Gruen, and Vineet Bhandari 42 Disorders of DNA Repair and Metabolism, 146 Sharon E Plon Applications to Specific Disorders Chromosomal Disorders 43 Autosomal Trisomies, 155 Cynthia J Curry 44 Sex Chromosome Abnormalities, 157 Claus H Gravholt 45 Deletions and Other Structural Abnormalities of the Autosomes, 161 Nancy B Spinner, Laura K Conlin, Surabhi Mulchandani, and Beverly S Emanuel Cardiovascular Disorders 46 Congenital Heart Defects, 169 Rocio Moran and Nathaniel H Robin 47 Inherited Cardiomyopathies, 175 Polakit Teekakirikul, Carolyn Y Ho, and Christine E Seidman 48 Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension, 181 Eric D Austin, John H Newman, James E Loyd, and John A Phillips 49 Hereditary Hemorrhagic Telangiectasia (Osler – Weber – Rendu Syndrome), 184 Alan E Guttmacher, Douglas A Marchuk, Scott O Trerotola, and Reed E Pyeritz 50 Hereditary Disorders of the Lymphatic System and Varicose Veins, 192 Robert E Ferrell and Reed E Pyeritz 51 The Genetics of Cardiac Electrophysiology in Humans, 196 Reed E Pyeritz 52 Genetics of Blood Pressure Regulation, 201 Frank S Ong, Kenneth E Bernstein, and Jerome I Rotter 53 Preeclampsia, 206 Anthony R Gregg viii CONTENTS 54 Common Genetic Determinants of Coagulation and Fibrinolysis, 209 Angela M Carter, Kristina F Standeven, and Peter J Grant 55 Genetics of Atherosclerotic Cardiovascular Disease, 213 Atif N Qasim and Muredach P Reilly 56 Disorders of the Venous System, 215 Pascal Brouillard, Nisha Limaye, Laurence M Boon, and Miikka Vikkula 57 Capillary Malformation/Arteriovenous Malformation, 219 Nicole Revencu, Laurence M Boon, and Miikka Vikkula Respiratory Disorders 58 Cystic Fibrosis, 225 Garry R Cutting 59 Genetic Underpinnings of Asthma and Related Traits, 229 Hakon Hakonarson, Michael E March, and Patrick M A Sleiman 60 Hereditary Pulmonary Emphysema, 234 Chad K Oh and Nestor A Molfino 61 Interstitial and Restrictive Pulmonary Disorders, 237 William E Lawson and James E Loyd Renal Disorders 62 Congenital Anomalies of the Kidney and Urinary Tract, 241 Grace J Noh, Rosemary Thomas-Mohtat, and Elaine S Kamil 63 Cystic Diseases of the Kidney, 252 Angela Sun, Raymond Y Wang, and Dechu P Puliyanda 64 Nephrotic Disorders, 255 Hannu Jalanko and Helena Kääriäinen 65 Renal Tubular Disorders, 257 Richard E Hillman 66 Cancer of the Kidney and Urogenital Tract, 259 Eamonn R Maher Gastrointestinal Disorders 67 Gastrointestinal Tract and Hepatobiliary Duct System, 267 Eberhard Passarge 68 Bile Pigment Metabolism and Its Disorders, 270 Namita Roy Chowdhury, Jayanta Roy Chowdhury, and Yesim Avsar 69 Cancer of the Colon and Gastrointestinal Tract, 272 C Richard Boland, Barbara Jung, and John M Carethers Hematologic Disorders 70 Hemoglobinopathies and Thalassemias, 283 John Old 71 Other Hereditary Red Blood Cell Disorders, 290 Bertil Glader CONTENTS ix 72 Hemophilias and Other Disorders of Hemostasis, 292 Jordan A Shavit and David Ginsburg 73 Rhesus and Other Fetomaternal Incompatibilities, 298 Gregory Lau 74 Leukemias, Lymphomas, and Other Related Disorders, 300 Yanming Zhang and Janet D Rowley 75 Immunologic Disorders, 302 Nancy L Reinsmoen, Kai Cao, and Chih-Hung Lai 76 Systemic Lupus Erythematosus, 304 Yun Deng, Bevra H Hahn, and Betty P Tsao 77 Rheumatoid Disease and Other Inflammatory Arthropathies, 306 Sarah Keidel, Catherine Swales, and Paul Wordsworth 78 Amyloidosis and Other Protein Deposition Diseases, 309 Merrill D Benson 79 Immunodeficiency Disorders, 312 Rochelle Hirschhorn, Kurt Hirschhorn, and Luigi D Notarangelo 80 Inherited Complement Deficiencies, 315 Kathleen E Sullivan Endocrinologic Disorders 81 Disorders of Leukocyte Function, 321 Harry R Hill, Attila Kumánovics, and Kuender D Yang 82 Genetic Disorders of the Pituitary Gland, 325 Amy Potter, John A Phillips, and David L Rimoin 83 Thyroid Disorders, 330 Michel Polak and Gabor Szinnai 84 Parathyroid Disorders, 334 Geoffrey N Hendy, Murat Bastepe, and David E C Cole 85 Diabetes Mellitus, 338 Leslie J Raffel and Mark O Goodarzi 86 Genetic Disorders of the Adrenal Gland, 350 Karen Lin-Su, Oksana Lekarev, and Maria I New 87 Disorders of the Gonads, Genital Tract, and Genitalia, 352 Joe Leigh Simpson 88 Cancer of the Breast and Female Reproductive Tract, 361 Ora Karp Gordon Metabolic Disorders 89 Disorders of the Body Mass, 365 Patricia A Donohoue and Omar Ali 90 Genetic Lipodystrophies, 367 Abhimanyu Garg 91 Amino Acid Metabolism, 372 Raymond Y Wang, William R Wilcox, and Stephen D Cederbaum
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