Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis

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Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and most sections are preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in color.
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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression. It is a complete and current account of how gene behavior influences causation of human malformations as well as normal development.
Purpose: The purpose of the second edition has changed from the first edition. It is clear that an understanding of the molecular mechanisms that govern developmental processes allows the classification of disorders by developmental signal transduction pathways and not by the classical body-organ systems approach. This unique book describes how signal transduction pathways affect morphogenesis and, therefore, in the abnormal stage, may induce malformations and malformation syndromes.
Audience: With their first edition, the editors targeted a wide-ranging audience, including physicians, dentists, genetics counselors, and other health professionals as well as basic scientists and students of human development. It is clear that the degree of sophistication of the information in the second edition requires readers to have a basic background in human genetics. This is a unique resource for dysmorphologists, clinical geneticists, genetic counselors, basic scientists, and medical genetics residents looking to understand the gene-based mechanisms of dysmorphogenesis. The editors, recognized members of the medical genetics community, have put together an incredible team of authors with a high degree of expertise in their field.
Features: This is a masterpiece. The book moves from basic concepts of human malformations and their genetic basis and gently introduces the field of patterns of development. Then the book moves to defined signaling pathways in categories such as the sonic hedgehog signaling pathway, the transforming growth factor pathways, and the fibroblast growth factor signaling pathway. Each entry provides a wonderful introduction to the subject followed by the description of the particular mechanism. The editors have designed each chapter to provide a substantial amount of clinical information that makes the link between molecular mechanisms and clinical disorders very easy to understand. Clinicians as well as basic scientists should be able to follow the book easily. In an attempt to keep this publication as a single volume, the editors have made supplementary references, tables, and figures available through the Oxford University Press website. This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers.
Assessment: There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional and I look forward to future editions.
From the Publisher

"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional."-- Doody's

"...amazingly comprehensive...This book is an extraordinary accomplishment; no clinical geneticist can function without it."--American Journal of Medical Genetics

"...the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership who may now marvel and consider how lucky we are to be studying, researching or otherwise employed at such a moment in time."--Human Genetics

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Product Details

Meet the Author


University of Arizona

University of California - San Diego

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Table of Contents

1 Human Malformations and Their Genetic Basis 3
2 General Principles of Differentiation and Morphogenesis 10
3 Model Organisms in the Study of Development and Disease 25
4 Consequences of the Genome Project for Understanding Development 46
5 Developmental Origins of the Mammalian Body Plan 53
6 Neural Crest Formation and Craniofacial Development 67
7 Development of the Nervous System 75
8 Development of the Ear 89
9 Development of the Heart and Vasculogenesis 107
10 Development of Muscle and Somites 120
11 Development of Bone and Cartilage 133
12 Development of the Limbs 148
13 Development of the Genitourinary System 168
14 Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut 182
15 Development of Epidermal Appendages: Teeth and Hair 199
16 An Introduction to Sonic Hedgehog Signaling 210
17 DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis 229
18 SHH and Holoprosencephaly 240
19 PTCH and the Basal Cell Nevus (Gorlin) Syndrome 249
20 GL13 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes 257
21 SALLI and the Townes-Brocks Syndrome 265
22 Wnt Signaling Pathways 272
23 WISP3 and Progressive Pseudorheumatoid Dysplasia 282
24 An Introduction to TGF-[beta]-Related Signaling 285
25 NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis 296
26 ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies 300
27 CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C 314
28 ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis 319
29 RUNX2 and Cleidocranial Dysplasia 331
30 Signaling by TNF and Related Ligands 340
31 EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway 359
32 Molecular and Cellular Biology of FGF Signaling 367
33 FGFs/FGFRs and Associated Disorders 380
34 TWIST and the Saethre-Chotzen Syndrome 401
35 Signaling Pathways of Glial Cell-Derived Neurotrophic Factor 410
36 RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2 421
37 Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways 433
38 EDNRB, END3, and SOX10 and the Shah-Waardenburg Syndrome 440
39 Introduction to Notch Signaling 447
40 JAG1 and the Alagille Syndrome 461
41 DLL3 and Spondylocostal Dysostosis 470
42 Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal 482
43 SOX9 and Campomelic Dysplasia and Sex Reversal 492
44 AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives 497
45 DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal 502
46 The Role of Hox and Dlx Gene Clusters in Evolution and Development 515
47 HOXD13 and Synpolydactyly 521
48 HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes 529
49 Transcription Factors Involved in Disorders of Forebrain and Pituitary Development 540
50 IDX1 and Pancreatic Agenesis and Type 2 Diabetes 552
51 MSX1 and Partial Anodonita, Orofacial Clefting, and the Witkop Syndrome 557
52 MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification 568
53 SHOX and Dyschondrosteosis and the Turner Syndrome 572
54 HLXB9 and Sacral Agenesis and the Currarino Syndrome 578
55 EYA1 and the Branchio-Oto-Renal Syndrome 588
56 PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis 599
57 CSX/NKX2-5 and Congenital Heart Disease 607
58 LMX1B and the Nail Patella Syndrome 615
59 Introduction to Paired-Box Genes 625
60 PAX2 and the Renal-Coloboma Syndrome 633
61 PAX3 and the Waardenburg Syndrome Type 1 643
62 PAX6 and Aniridia and Related Phenotypes 649
63 PAX9 and Hypodontia 658
64 Introduction to Forkhead Genes 664
65 FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome 671
66 FOXC2 and Lymphedema Distichiasis 681
67 Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways 686
68 TBX1 and the DiGeorge Syndrome Critical Region 699
69 TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes 705
70 Mechanisms of Regulated Gene Transcription 719
71 CBP and the Rubinstein-Taybi Syndrome 728
72 ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome 747
73 IFG2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome 758
74 15q11-13 and the Prader-Willi Syndrome 766
75 DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 776
76 RSK2 and the Coffin-Lowry Syndrome 780
77 MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes 789
78 POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) 792
79 TFAP2B and the Char Syndrome 798
80 An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis 804
81 UBE3A and the Angelman Syndrome 815
82 VHL and von Hippel-Lindau Disease 823
83 MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes 828
84 An Introduction to Guanine Nucleotide-Binding Proteins 832
85 GNAS an McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB 849
86 FGDI and Faciogenital Dysplasia (Aarskog-Scott Syndrome) 867
87 NF1 and Neurofibromatosis 1 879
88 ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome 886
89 PTPN11 and the Noonan Syndrome 895
90 Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration 904
91 TSC1 and TSC2 and Tuberous Sclerosis 910
92 LIS1 and DCX and Classical Lissencephaly 920
93 RELN and Lissencephaly with Cerebellar Hypoplasia 931
94 DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome 934
95 Extracellular Matrix and Signaling during Development 946
96 GPC3 and the Simpson-Golabi-Behmel Syndrome 951
97 HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type 957
98 LICAM and X-Linked Hydrocephalus 966
99 COMP and Pseudoachondroplasia 970
100 MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome 977
101 Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors 987
102 VEGFR3 and Milroy Disease 997
103 KCNJ2 (Kir2.1) and Andersen Syndrome 1001
104 ANKH and Craniometaphyseal Dysplasia 1007
105 p63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), and Acro-Dermato-Ungual-Lacrimal-Digit (ADULT) Syndromes an Ectrodactyly (Split Hand/Foot Malformation) 1017
106 TCOF1 (Treacle) and the Treacher Collins Syndrome 1027
107 LMBR1 and Acheiropodia and Preaxial Polydactyly 1038
108 BBS Genes and the Bardet-Biedl Syndrome 1044
Index 1051
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