Emery and Rimoin’s Essential Medical Genetics

647 Pages·2013·18.569 MB·English

by  David L Rimoin, Reed E Pyeritz, Bruce R Korf (eds.)

Emery and Rimoin’s Essential
Medical Genetics
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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
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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