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

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

by Charles J. Epstein

ISBN-10: 019514502X

ISBN-13: 9780195145021

Pub. Date: 01/28/2004

Publisher: Oxford University Press, USA

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…  See more details below


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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Product Details

Oxford University Press, USA
Publication date:
Oxford Monographs on Medical Genetics Series, #49
Product dimensions:
11.30(w) x 8.80(h) x 2.10(d)

Table of Contents

1Human Malformations and Their Genetic Basis3
2General Principles of Differentiation and Morphogenesis10
3Model Organisms in the Study of Development and Disease25
4Consequences of the Genome Project for Understanding Development46
5Developmental Origins of the Mammalian Body Plan53
6Neural Crest Formation and Craniofacial Development67
7Development of the Nervous System75
8Development of the Ear89
9Development of the Heart and Vasculogenesis107
10Development of Muscle and Somites120
11Development of Bone and Cartilage133
12Development of the Limbs148
13Development of the Genitourinary System168
14Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut182
15Development of Epidermal Appendages: Teeth and Hair199
16An Introduction to Sonic Hedgehog Signaling210
17DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis229
18SHH and Holoprosencephaly240
19PTCH and the Basal Cell Nevus (Gorlin) Syndrome249
20GL13 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes257
21SALLI and the Townes-Brocks Syndrome265
22Wnt Signaling Pathways272
23WISP3 and Progressive Pseudorheumatoid Dysplasia282
24An Introduction to TGF-[beta]-Related Signaling285
25NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis296
26ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies300
27CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C314
28ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis319
29RUNX2 and Cleidocranial Dysplasia331
30Signaling by TNF and Related Ligands340
31EDI, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway359
32Molecular and Cellular Biology of FGF Signaling367
33FGFs/FGFRs and Associated Disorders380
34TWIST and the Saethre-Chotzen Syndrome401
35Signaling Pathways of Glial Cell-Derived Neurotrophic Factor410
36RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2421
37Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways433
38EDNRB, END3, and SOX10 and the Shah-Waardenburg Syndrome440
39Introduction to Notch Signaling447
40JAG1 and the Alagille Syndrome461
41DLL3 and Spondylocostal Dysostosis470
42Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal482
43SOX9 and Campomelic Dysplasia and Sex Reversal492
44AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives497
45DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal502
46The Role of Hox and Dlx Gene Clusters in Evolution and Development515
47HOXD13 and Synpolydactyly521
48HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes529
49Transcription Factors Involved in Disorders of Forebrain and Pituitary Development540
50IDX1 and Pancreatic Agenesis and Type 2 Diabetes552
51MSX1 and Partial Anodonita, Orofacial Clefting, and the Witkop Syndrome557
52MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification568
53SHOX and Dyschondrosteosis and the Turner Syndrome572
54HLXB9 and Sacral Agenesis and the Currarino Syndrome578
55EYA1 and the Branchio-Oto-Renal Syndrome588
56PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis599
57CSX/NKX2-5 and Congenital Heart Disease607
58LMX1B and the Nail Patella Syndrome615
59Introduction to Paired-Box Genes625
60PAX2 and the Renal-Coloboma Syndrome633
61PAX3 and the Waardenburg Syndrome Type 1643
62PAX6 and Aniridia and Related Phenotypes649
63PAX9 and Hypodontia658
64Introduction to Forkhead Genes664
65FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome671
66FOXC2 and Lymphedema Distichiasis681
67Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways686
68TBX1 and the DiGeorge Syndrome Critical Region699
69TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes705
70Mechanisms of Regulated Gene Transcription719
71CBP and the Rubinstein-Taybi Syndrome728
72ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome747
73IFG2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome758
7415q11-13 and the Prader-Willi Syndrome766
75DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome776
76RSK2 and the Coffin-Lowry Syndrome780
77MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes789
78POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3)792
79TFAP2B and the Char Syndrome798
80An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis804
81UBE3A and the Angelman Syndrome815
82VHL and von Hippel-Lindau Disease823
83MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes828
84An Introduction to Guanine Nucleotide-Binding Proteins832
85GNAS an McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB849
86FGDI and Faciogenital Dysplasia (Aarskog-Scott Syndrome)867
87NF1 and Neurofibromatosis 1879
88ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome886
89PTPN11 and the Noonan Syndrome895
90Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration904
91TSC1 and TSC2 and Tuberous Sclerosis910
92LIS1 and DCX and Classical Lissencephaly920
93RELN and Lissencephaly with Cerebellar Hypoplasia931
94DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome934
95Extracellular Matrix and Signaling during Development946
96GPC3 and the Simpson-Golabi-Behmel Syndrome951
97HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type957
98LICAM and X-Linked Hydrocephalus966
99COMP and Pseudoachondroplasia970
100MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome977
101Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors987
102VEGFR3 and Milroy Disease997
103KCNJ2 (Kir2.1) and Andersen Syndrome1001
104ANKH and Craniometaphyseal Dysplasia1007
105p63 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
106TCOF1 (Treacle) and the Treacher Collins Syndrome1027
107LMBR1 and Acheiropodia and Preaxial Polydactyly1038
108BBS Genes and the Bardet-Biedl Syndrome1044

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