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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 each section is 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 counselling, 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 colour.

 

Contents

I. GENERAL CONCEPTS

1. Introduction , Charles J. Epstein

2. General Principles of Differentiation and Morphogenesis , Scott F. Gilbert

3. Model Organisms in the Study of Development and Disease , Ethan Bier and William McGinnis

4. Consequences of the Genome Project for Understanding Development , David W. Mount

II. PATTERNS OF DEVELOPMENT

5. Developmental Origins of the Mammalian Body Plan , Michael M. Shen and Roger A. Pedersen

6. Neural Crest Formation and Craniofacial Development , Deborah Lang, Christopher B. Brown, and Jonathan A. Epstein

7. Development of the Nervous System , John L.R. Rubenstein and Luis Puelles

8. Development of the Ear , Donna M. Fekete

9. Development of the Heart and Vasculogenesis , Wolfgang Rottbauer and Mark C. Fishman

10. Development of Muscle and Somites , Alan Rawls and Jerry M. Rhee

11. Development of Bone and Cartilage , Shunichi Murakami, Haruhiko Akiyama, and Benoit de Crombrugghe

12. Development of the Limbs , Sahir Nissim and Cliff Tabin

13. Development of the Genitourinary System , Dylan Steer, Kazuhito Fukuoka, Stanley Mendoza, and Sanjay Nigam

14. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut , Ben Z. Stanger and Douglas A. Melton

15. Development of Epidermal Appendages: Teeth and Hair , Atsushi Ohazama and Paul T. Sharpe

III. DEFINED PATHWAYS

Part A. The Sonic Hedgehog Signaling Pathway

16. An Introduction to Sonic Hedgehog Signaling , M. Michael Cohen, Jr.

17. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis , Mira Irons

18. SHH, ZIC2, SIX3, TGIF, PTCH, GLI2, FAST1, TDGF1, and DHCR7 and Holoprosencephaly , M. Michael Cohen, Jr.

19. PTCH and the Basal Cell Nevus (Gorlin) Syndrome , Ervin Epstein, Jr.

20. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes , Leslie G. Biesecker

21. SALL1 and the Townes-Brocks Syndrome , Jurgen Kohlhase and Wolfgang Engel

Part B. The Wnt (Wingless-Type) Signaling Pathway

22. Wnt Signaling Pathways , Laird C. Sheldahl and Randall T. Moon

23. WISP3 and Progressive Pseudoheumatoid Dysplasia , Wafaa Suwairi and Matthew L. Warman

Part C. The Transforming Growth Factor (TGF-B) Signaling Pathway

24. An Introduction to TGF-B-Related Signaling , Anna Petryk and Michael B. O'Connor

25. NOG and Proximal Symphalangisms, Multiple Synotosis, and Fibrodysplasia Ossifican Progressiva , Matthew L. Warman

26. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies , Stephanie M. Ware and John W. Belmont

27. CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C , Michael W. Kilpatrick and Petros Tsipouras

ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis Douglas A. Marchuk and Jonathan N. Berg

28. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis , Douglas A. Marchuk and Jonathan N. Berg

29. RUNX2 and Cleidocranial Dysplasia , Brendan Lee and Guang Zhou

Part D. The Tumor Necrosis Factor Signaling Pathway

30. Signaling by TNF and Related Ligands , Pascal Schneider

31. EDA, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and Ectodysplasin Signaling Pathway , Jonathan Zonana

Part E. The Fibroblast Growth Factor Signaling Pathway

32. Molecular and Cellular Biology of FGF Signaling , David Givol, Veraragavan P. Eswarakumar, and Peter Lonai

33. FGFR1, FGFR2, and FGFR3 and Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, Autosomal Dominant Hypophosphatemic Rickets and the Apert, Beare-Stevenson Cutis Gyrata, Crouzon, Crouzonodermoskeletal, Jackson-Weiss, Muenke, Pfeiffer, and SADDAN Syndromes , M. Michael Cohen, Jr.

34. TWIST and the Saethre-Chotzen Syndrome , Ethylin Wang Jabs

Part F. The Glial Cell-Derived Neurotrophic Factor Signaling Pathway

35. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor , Louis F. Reichardt

36. RET and Hirschprung Disease and Multiple Endocrine Neoplasia Type 2 , Andrew S. McCalion and Aravinda Chakravarti

Part G. The Endothelin Signaling Pathway

37. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10-Signaling Pathways , Cheryl E. Gariepy and Masashi Yanagisawa

38. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome , Joke B.G.M. Verheij and Robert M.W. Hofstra

Part H. The Notch Signaling Pathway

39. Introduction to Notch Signaling , Alison Miyamoto and Gerry Weinmaster

40. JAG1 and the Alagille Syndrome , Nancy B. Spinner and Ian D. Krantz

41. DLL3 and Spondylocostal Dysotosis , Peter D. Turnpenny and Kenro Kusumi

Part I. The Sex Determination Pathway

42. Introduction to the Sex Determination Pathway: Mutation in Many Genes and Sexual Ambiguity and Reversal , Robert P. Erickson

43. SOX9 and Campomelic Dysplasia and Sex Reversal , Sahar Mansour

44. AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives , Jean-Yves Picard

45. DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal , Eric Vilain and Edward R.B. McCabe

GENE FAMILIES NOT IN PATHWAYS

Part A. The Homeoobox Gene Family

46. Role of Hox and D1x Gene Clusters in Evolution and Development , Frank H. Ruddle

47. HOXD13 and Synpolydactyly , Frances R. Goodman and Peter J. Scambler

48. HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes , Jeffrey W. Innis

49. EMX2 and HESX1 and Type II Schizencephaly and Septo-Optic Dysplasia , Kathryn Woods and Mehul T. Dattani

50. IDX1 and Pancreatic Agenesis and Type 2 Diabetes , Melissa K. Thomas and Joel F. Habener

51. MSX1 and Partial Anodontia and the Witkop Syndrome , Marie-Jose H. van den Boogaard

52. MSX2 and ALX4 and Craniosynotosis and Defects in Skull Ossification , Ulrich Muller

53. SHOX and Dyschondrosteosis and Turner Syndrome , Jay W. Ellison

54. HLXB9 and Sacral Agenesis and the Currarino Syndrome , Stephen Scherer, Giuseppe Martucciello, Elena Belloni, and Michele Torre

55. EYA1 and the Branchio-Oto-Renal Syndrome , Robert T. Moy and Richard L. Maas

56. PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomoly, and Anterior Segment Ocular Dysgenesis , Elena V. Semina

57. CSX/NKX2-5 and Congenital Heart Disease , Patrick Y. Jay, Andrew J. Powell, Megan C. Sherwood, and Seigo Izumo

58. LMX1B and the Nail Patella Syndrome , Brendan Lee and Roy Morello

Part B. The Paired-Box (PAX) Gene Pathway

59. Introduction to Paired-Box Genes , Petros Petrou and Peter Gruss

60. PAX2 and the Renal-Coloboma Syndrome , Michael R. Eccles

61. PAX3 and the Waardenburg Syndrome Type 1 , Andrew Read

62. PAX6 and Aniridia and Related Phenotypes , Veronica van Heningen and Kathleen Williamson

63. PAX9 and Hypodontia , Pragna I. Patel and Donald T. Brown

Part C. The Forkhead Gene Family

64. Introduction to Forkhead Genes , Naoyuki Miura, Tao Wang, and Tomoki Tamakoshi

65. FOXC1 and FOXL2 and the Axenfeld-Rieger Malfomations and the Blepharophomisis Ptosis Epicanthus Inversus Syndrome , Ramsey A. Saleem, Fred B. Berry, and Michael A. Walter

66. FOXC2 and Lymphedema Distichiasis , Robert P. Erickson

Part D. The T-Box Gene Family

67. Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways , Virginia E. Papaioannou and Sarah N. Goldin

68. TBX1 and the DiGeorge Syndrome Critical Region , Scott E. Klewer, Raymond B. Runyan, and Robert P. Erickson

69. TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes , Michael J. Bamshad and Lynne B. Jorde

PROCESSES

Part A. Regulation of Chromatin Structure and Gene Expression

70. Mechanisms of Regulated Gene Transcription , Michael G. Rosenfeld, Kirsten Jepsen, Ola Hermanson, and Christopher K. Glass

71. CBP and the Rubinstein-Taybi Syndrome , Fred Petrij, Martinj H. Breuning, Raoul C.M. Hennekam, and Rachel H. Giles

72. ATRX and the X-linked -Thalassemia Mental Retardation Syndrome , Richard J. Gibbons and Takahito Wada

73. IGF2, H19, p57k1p2, and LIT1 and the Beckwith-Wiedemann Syndrome , Michael R. DeBaun and Andrew P. Feinberg

74. 15q11-13 and the Prader-Willi Syndrome , Shawn E. McCandles and Suzanne B. Cassidy

75. DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome , Deborah Bourchis, Francoise Ledeist, and Evani Viegas-Pequignot

76. RSK2 and the Coffin-Lowry Syndrome , Maria Zeniou, Sylvie Jacquot, Jean-Pierre Delaunoy, and Andre Hanauer

Part B. Transcription Factors

77. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes , Masayoshi Tachibana

78. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) , Frans P.M. Cremers and Cor W.R.J. Cremers

79. TFAP2B and the Char Syndrome , Masahiko Satoda and Bruce D. Gelb

Part C. Posttranslational Control and Ubiquination

80. An Introduction to Posttranslational Control by Ubiquintin-Dependent Proteolysis , Peter K. Jackson

81. UBE3A and the Angelman Syndrome , Joseph Wagstaff

82. VHL and von Hippel-Lindau Disease , Eamonn R. Maher

83. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes , Leslie G. Biesecker

Part D. Guanine Nucleotide-Binding Proteins

84. An Introduction to Guanine Nucleotide-Binding Proteins , Sarah E. Newey and Linda Van Aelst

85. GNAS1 and McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB , Lee S. Weinstein

86. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome) , Jerome L. Gorski

87. NF1 and Neurofibromatosis 1

Part E. Kinases and Phosphatases

88. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome , Michael Oldridge and Andrew O.M. Wilkie

89. PTPN11 and Noonan Syndrome , Marco Tartaglia and Bruce D. Gelb

Part F. Microtubule Motors and Cytoskeleton

90. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement and Nuclear Migration , Anthony Wynshaw-Boris

91. TSC1 and TSC2 and Tuberous Sclerosis , David J. Kwiatkowski

92. LIS1 and DCX and Classical Lissencephaly , Joseph G. Gleeson

93. RELN and Lissencephaly with Cerebellar Hypoplasia , Christopher A. Walsh

94. DNAH5 and DNAI1 and Primary Ciliary Dyskinesia and Kartagener Syndrome , Michal Witt

Part G. Extracellular Matrix

95. Extracellular Matrix and Signaling during Development , Scott B. Selleck and Sally Stringer

96. GPC3 and the Simpson-Golabi-Behmel Syndrome , Scott Saunders, Rick A. Martin and Michael R. DeBaun

97. HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type , Sophie Nicole and Bertrand Fontaine

98. L1CAM and X-Linked Hydrocephalus , Connie Schrander-Stumpel and Jean-Pierre Fryns

99. COMP and Pseudoachondroplasia , Daniel H. Cohn

100. MMp2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome , Oonagh Dowling and John A. Martingnetti

Part H. Angiogenesis

101. Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors , Miika Vikkula, Marika J. Karkkainen and Kari Alitalo

102. VEGFR3 and Milroy's Disease , Robert E. Ferrell

Part I. Transporters

103. KCNJ2 (KIR2.1) and the Andersen Syndrome , David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, and Louis J. Ptacek

104. ANKH and Craniometaphyseal Dysplasia , Peter Nurnberg and Sigrid Tinchert

Dysmorphic Disease Genes of Unknown Function

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-Ungal-Lacrimal-Digit (ADULT) Syndromes and Ectrodactyly (Split Hand/Foot Malformation , Michael J. Bamshad

106. TCOF1 (Treacle) and the Treacher Collins Syndrome , Jill Dixon and Michael J. Dixon

107. LMBR1 and Acheiropodia and Preaxial Polydactyly , Petros Tsipouras and Michael W. Kilpatrick

108. BBS Genes and the Bardet-Biedl Syndrome , Val C. Sheffield, Elise Heon, Edwin M. Stone, and Rivka Carmi