Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3rd Revised edition)

ISBN : 9780199934522

Robert P. Erickson; Anthony J. Wynshaw-Boris
1528 Pages
216 x 279 mm
Pub date
Apr 2016
Oxford Monographs on Medical Genetics
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This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.


1. Human Malformations and Their Genetic Basis
2. Principles of Differentiation and Morphogenesis
3. Model Organisms in the Study of Development and Disease
4. Human Genomics and Human Development

5. Development of Left-Right Asymmetry
6. Neural Crest Formation and Craniofacial Development
7. Development of the Nervous System
8. Development of the Eye
9. Development of the Ear
10. Molecular Regulation of Cardiogenesis
11. Update on the Development of the Vascular System and Its Sporadic Disorders
12. Muscle and Somite Development
13. The Development of Bone and Cartilage
14. Limb Development
15. The Sex Determination Pathway
16. Development of the Kidney
17. Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut
18. Development of Epidermal Appendages: Teeth and Hair


Part A: Ciliary Functions: Genesis, Transport, and Reabsorbtion
19. Primary Ciliary Dyskinesia (Kartagener's Syndrome)
20. The Molecular Basis of Joubert Syndrome and Related Disorders
21. The Bardet-Biedl Syndrome
22. The Molecular basis of Oral-facial-digital type I (OFDI) Syndrome
23. Meckel syndrome
24. From Hydrolethalus to Acrocallosal syndromes: A spectrum of disorders linked to KIF7 gene.
25. Sensenbrenner syndrome (Cranioectodermal dysplasia, CED)-a genetically heterogeneous ciliopathy

Part B: The Sonic Hedgehog Singaling Pathway
27. The Hedgehog Signaling Network
28. Smith-Lemli-Opitz Syndrome
29. SHH and Holoprosencephaly
30. IHH and Acrocapitofemoral Dysplasia and Brachydactyly A1
31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome
32. GLI3 and the Pallister-Hall and Grieg Cephalopolysyndactyly Syndromes
33. SALL1 and the Townes-Brocks Syndrome
34. MYCN and Feingold Syndrome
35. Preaxial Polydactyly Type 2 and Associated Limb Defects

Part C: The WNT Signaling Pathway
36. The WNT Signaling Pathway
37. AXIN2, Tooth Agenesis, and Colorectal Cancer
38. WNT3 and Tetra-Amelia
39. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome
40. Cenani-Lenz Syndrome
41. Goltz Syndrome (Focal Dermal Hypoplasia)
42. WNT10A and Odonto-Onycho-Dermal Dysplasia
43. Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome
44. Axin and Caudal Duplication Anomaly

Part D: Planar Cell Polarity (PCP) Pathway
45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects


Part A: The Transforming Growth Factor-B Signaling Pathway
46. An Introduction to TGF-? Family Signaling
47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis
48. NODAL Signaling and Heterotaxy
49. ENG, ACVRL1, and SMAD4 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
50. RUNX2 and Cleidocranial Dysplasia
51. AMH/MIS and Its Receptors: The Persistent Mullerian Duct Syndrome
52. LE3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis
53. TGFBR 1/2 and Loeys-Dietz Syndrome
54. ZEB2 and Mowat-Wilson Syndrome
55. LTBP4 and Urban-Rifkin-Davis Syndrome
56. ACVR1 and Fibrodysplasia Ossificans Progressiva
57. The Role of the Latent TGF-? Binding Protein 3, LTBP3, in Oligodontia and Bone Density Abnormality

Part B: The Tumor Necrosis Factor Signaling Pathway
58. Signaling by TNF and Related Ligands
59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias

Part C: The Fibroblast Growth Factor Signaling Pathway
60. Molecular and Cellular Biology of FGF Signaling
61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndrome
62. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome
63. TWIST1 and the Saethre-Chotzen Syndrome
64. KAL1, FGFR1, FGF8, PROKR2, PROK2 and Kallmann syndrome
65. TIE2 (TEK) and Venous Malformation
66. FLT4 (VEGFR3) and Milroy Disease
67. Focal Facial Dermal Dysplasias

Part D: The Glia Cell-derived Neurotrophic Factor Signaling
68. Signaling Pathways of Glial cell-derived Neurotrophic Factor
69. RET mutation and function in HSCR, MEN2 and other cancers

Part E: Introduction to Endothelin-B Receptor and SOX10 Pathways
70. Introduction to Endothelin-B Receptor and SOX10 Pathways
71. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome (WS4)

Part F: The Notch Signaling Pathway
72. Introduction to Notch Signaling
73. JAG1 and NOTCH2 and the Alagille Syndrome
74. DLL3, MESP2, LFNG, HES7, TBX6 and Spondylocostal Dysostosis

Part G: The P13K-LKB1 Pathway
75. The PI3K-LKB1 Pathway
76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba Syndromes
77. STK11 (LKB1) and Peutz-Jeghers Syndrome
78. TSC1 and TSC2 and Tuberous Sclerosis

Part H: The RAS/ERK/MAPK Pathway
79. The RAS Pathway
80. Neurofibromatosis Type 1
81. Clinical Features of Noonan Syndrome
82. HRAS and Costello Syndrome
83. The Ras/MAPK Pathway and the Cardio-facio-cutaneous Syndrome
84. RASA1 and Capillary Malformation- Arteriovenous Malformation
85. SPRED1 and Legius syndrome

Part I: Eph-Eph Signaling
86. Introduction to Eph/ephrin signaling in vertebrate development
87. Craniofrontonasal syndrome and EFNB1 mutations


Part A: The Homeobox Gene Family
88. The Role of Hox and Dlx Gene Clusters in Evolution and Development
89. HOXA1 Deficiency Syndrome
90. HOXA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis
91. HOXA13 Hand-foot-genital syndrome (MIM#140000) Guttmacher syndrome (MIM#176305)
92. HOXD10 mutations associated with congenital vertical talus and pes cavus claw toe limb abnormalities
93. HOXD13 and Synpolydactyly
94. EMX2 and HESX1 and Type I Schizencephaly and Septo-Optic Dysplasia
95. PDX1 and Pancreatic Agenesis and Type 2 Diabetes
96. MSX1 and hypodontia, orofacial clefting and the Witkop syndrome
97. MSX2 in Craniosynostosis and Defects of Skull Ossification
98. SHOX and Dyschondrosteosis and Turner Syndrome
99. HLXB9 (MNX1) and Sacral Agenesis and the Currarino Syndrome
100. Branchio-Oto-Renal (BOR) Syndrome
101. PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurologic Impairment
102. NKX2-5 and Congenital Heart Disease
103. LMX1B and the Nail Patella Syndrome
104. ALX Homeobox Gene Family and Frontonasal Dysplasias
105. ZEB2 and Mowat-Wilson Syndrome
106. PRRX1
107. Developmental abnormalities due to mutations in the Aristaless-related homeobox gene
108. PITX1 associated congenital lower limb malformations

Part B: The Paired-Box (PAX) Gene Family
109. The Paired-Box (PAX) Gene Family: Introduction to Paired-Box Genes
110. PAX2 and the Renal-Coloboma Syndrome
111. PAX3 and Waardenburg Syndrome Type 1
112. PAX6 and Aniridia and Related Phenotypes
113. PAX9 and Hypodontia

Part C: The Forkhead Gene Family
114. Introduction to Forkhead Genes
115. FOXC1 and FOXL2 and the Axenfeld-Rieger Syndrome and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
116. FOXC2, FOXF1, and the 16q24.1 region microdeletions: lymphatic, vascular, cardiac, and other phenotypes
117. FOXE1: Bamforth-Lazarus syndrome, thyroid dysgenesis and thyroid cancerpredisposition
118. AAGGF1 and Vascular Disease Klippel-Trenaunay Syndrome

Part D: The T-Box Gene Family
119. Introduction to the T-Box Genes, Their Evolution and Roles in Development
120. The 22q11.2 deletion syndrome and TBX1
121. TBX3 and TBX5 and the Ulnar-Mammaryand Holt-Oram Syndromes
122. TBX22 and X-linked Cleft Palate and Ankyloglossia

Part E: The SOX Gene Family
123. Sox genes in development and disease
124. Functions of Sox Genes in Development and Disease
125. SOX3 and Infundibular Hypoplasia
126. SOX9 and Campomelic Dysplasia and Sex Reversal
127. SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Part F: Transcription Factors
128. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes
129. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFNX2)
130. Char and Branchiooculofacial Syndromes: The AP-2: Transcription Factor Defects MIM# 169100 and 113620
131. GATA3 and Hypoparathryodism, Deafness and Renal Disease
132. FOG-2 (now ZFPM2) and GATA-4, Congenital Heart Disease and Diaphragmatic Hernia
133. PTF1A: Pancreatic and Cerebellar Agenesis
134. RAI1, Smith-Magenis and Potocki-Lupski syndromes
135. SALL4 and the Duane Radial-Ray/ Okihiro and Acro-renal-ocular syndromes
136. HNF1B-MODY: A Disorder of Development with Diabetes and Congenital Malformations in Pancreas and Urogenital Tract Due to Mutations in HNF1B
137. ZIC1, ZIC4 and FOXC1 in Dandy-Walker Malformation
138. TRPS1 and the Tricho-rhino-phalangeal Syndromes
139. MED12 and Opitz-Kaveggia Syndrome
140. Borjeson-Forssman-Lehmann syndrome and PHF6

Part G: Regulation of Chromatin Structure and Gene Expression
141. Mechanisms of Regulated Gene Transcription
142. CBP (CREBBP), the Rubinstein-Taybi Syndrome and the 16p13.3 duplication syndrome
143. ATRX, X-Linked a-Thalassemia Mental Retardation
144. IGF2, H19, CDKNIC, and KCNQ1OT1 and the Beckwith-Wiedemann Syndrome
145. Prader-Will Syndrome
146. Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
147. RSK2 and the Coffin-Lowry Syndrom
148. The BCL6 corepressor (BCOR) and oculofaciocardiodental syndrome
149. CHD7 and CHARGE syndrome
150. Carboxy-Terminal Domain Phosphatase1: Congenital Cataracts Facial Dysmorphism Neuropathy Syndrome
151. ESCO2 and Roberts Syndrome
152. MS. 173 / Pathways-Cohesinopathies
153. NSD1 and Sotos Syndrome
154. Kabuki Syndrome
156. HDAC4 and 2q37 Deletion Syndrome
157. Warsaw Breakage Syndrome


Part A: RNA Localization and Control of Activity
158. Posttranscriptional Control: Nuclear RNA Processing
159. FMR1 and the Fragile X Syndrome
160. TCOF1 (Treacle) and the Treacher Collins Syndrome
161. RMRP and Cartilage-Hair Hypoplasia

Part B: Posttranslational Control and Ubiquitination
162. An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis
163. UBE3A and the Angelman Syndrome
164. VHL and von hippel-lindau disease
165. PQBP1 and Renpenning Syndrome, Related XLID Syndromes and Nonsyndromic XLID
166. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome
167. UBR1 and the N-end Rule Pathway and the Johanson-Blizzard Syndrome
169. MID1 and the X-linked Opitz G/BBB Syndrome
170. Peters' Plus syndrome
171. X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome)

Part C: Cell Cycle, Proliferation, and Apoptosis
172. An Introduction to the Mechanisms of Cell Cycle Regulation and Apoptosis
173. Hutchinson-Gilford Progeria Syndrome
174. Fanconi Anemia
175. RECQL4-related recessive conditions
176. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation)
177. Seckel syndrome
178. Miller syndrome
179. Meier-Gorlin Syndrome
180. Desbuquois Dysplasia

Part D: Guanine Nucleotide-binding Proteins
181. Extracellular Matrix and Signaling during Development
182. GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism
183. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome)
184. RAB3GAP1,RAB3GAP2,RAB18and TBC1D20 and the Warburg Microand Martsolf Syndromes
185. GPR56 and Bilateral Frontoparietal Polymicrogyria
186. ARHGAP31, DOCK6, RBPJ, EOGT and Adams-Oliver Syndrome

Part E: Microtubule Motors and Cytoskeleton
187. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration
188. Classical Lissencephaly
189. Lissencephaly with Cerebellar Hypoplasia
190. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III
191. Tessier 4 Oblique Facial Clefts
192. Deletion of 7q11.23 Genes and Williams Syndrome
193. SH3PXD2B and Frank-Ter Haar syndrome

Part F: Vesicle-mediated Trafficking and Endocytosis
194. Inborn Defects of Membrane Trafficking
195. VPS13B and Cohen Syndrome
196. VPS33B, VIPAS39 and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
197. SEC23A and Cranio-Lenticulo-Sutural Dysplasia
198. Griscelli Syndrome

Part G: Extracellular Matrix
199. Extracellular Matrix and Signaling during Development
200. GPC3 and the Simpson-Golabi-Behmel Syndrome
201. HSPG2 (perlecan), The Silverman-Handmaker type of Dyssegmental Dysplasia,and the Schwartz-Jampel Syndrome
202. L1CAM and X-linked Hydrocephalus (L1 syndrome)
204. Human MMP-2/MT1-MMP Deficiency: The Multicentric Osteolysis with Nodulosis and Arthropathy (MONA) and Winchester Syndromes
205. ADAMTS10, ADAMTS17 and FBN1 / the Weill-Marchesani Syndrome
206. Fraser Syndrome and Related Conditions
207. COMP and Pseudoachondroplasia
208. Walker-Warburg syndrome: Genetic heterogeneity converging at the abnormal glycosylation of alpha-dystroglycan
209. HPSE2 and LRIG2 and the Urofacial syndrome
210. Bifid Nose, Anorectal Malformation and Renal Agenesis (BNAR) Syndrome
211. CHST14, DSE and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome)
212. ADAMTSL2/FBN1 and the Geleophysic Dysplasia
214. Knobloch Syndrome

Part H: Junctions, Transporters, and Channels
215. GJA1 (CONNEXIN 43) and the Oculodentodigital Syndrome
216. KCNJ2 and the Andersen-Tawil Syndrome
217. ANKH and craniometaphyseal dysplasia

218. Role of EVC and EVC2 in Ellis-van Crevel Syndrome
219. P450 oxidoreductase deficiency and Antley-Bixler syndrome
220. TRIM37 and mulibrey nanism
221. KIAA1279 and Goldberg-Shprintzen Syndrome
222. GLMN and Glomuvenous Malformation
223. The Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations
224. Proteus Syndrome
225. Microphthalmia 9 (PDAC)
226. Ichthyosis prematurity syndrome
227. Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder
228. Mutations in SCARF2 are responsible for the van den Ende- Gupta Syndrome (VDEGS)

About the author: 

Robert P. Erickson is the Holsclaw Family Professor Emeritus of Human Genetics and Inherited Disease in the Department of Pediatrics at the University of Arizona.; Anthony J. Wynshaw-Boris is Division Chief at the Pediatric Medical Genetics University of California, San Francisco

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