Holoprosencephaly: A defect in brain patterning

Journal of Neuropathology and Experimental Neurology

Volumn 57, Issue 11, 1998, Pages 991-999

  Golden, Jeffrey A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CRANIOFACIAL DEVELOPMENT; CYTOGENETICS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ENVIRONMENTAL FACTOR; GENETIC PREDISPOSITION; HOLOPROSENCEPHALY; NEUROPATHOLOGY; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

EID: 0031728633     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199811000-00001     Document Type: Review

References (96)

1. Roach E, DeMyer W, Conneally P, Palmer C, Merritt A. Holoprosencephaly: Birth data, genetic and demographicanalysis of 30 families. Birth Defects: Original Article Series 1975;11:294-313
2. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996;64:465-72
3. Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 1997;73:217-26
4. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 1977;16:261-72
5. Cohen MM, Jr. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 1989;34:271-88
6. Collins AL, Lunt PW, Garrett C, Dennis NR. Holoprosencephaly: A family showing dominant inheritance and variable expression. Am J Med Genet 1993;30:36-40
7. Cohen MM, Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 1989;40:211-35
8. DeMyer W, Zeman W, Palmer C. The face predicts the brain, diagnostic significance of median facial anomalies from holoprosencephaly (arhinencephaly). Pediatrics 1964;34:711-18
9. Fryns J, Van den Berghe H. Letter to the editor: Single central maxillary incisor and holoprosencephaly. Am J Med Genet 1988;30:943-44
10. Ben-Hur N, Asur H, Musseir M. An unusual case of median lip with orbital hypotelorism - A missing link in the classification. Cleft Palate Craniofac J 1978;15:365-68
11. Golden J, Holmes L. The face-brain relationship: A case of the face not predicting the brain. Clinical Dysmorphol 1994;3:164-70
12. Van Gool S, de Zegher F, de Vries L, et al. Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: A case report. Eur J Pediatr 1990;149:621-22
13. Barr M, Jr., Hanson JW, Currey K, et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983;102:565-68
14. Peiffer J, Majewski F, Fischbach H, Bierich JR, Volk B. Alcohol embryo-and fetopathy. Neuropathology of 3 children and 3 fetuses. J Neurol Sci 1979;41:125-37
15. Jellinger K, Gross H, Kaltenback E, Grisold W. Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations. Acta Neuropathol (Berl) 1981;55:1-10
16. Bonnemann C, Meinecke P. Holoprosencephaly as a possible embryonic alcohol effect: Another observation [letter; comment]. Am J Med Genet 1990;37:431-32
17. Ronen GM, Andrews WL. Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 1991;40:151-54
18. Coulter CL, Leech RW, Schaefer GB, Scheithauer BW, Brumback RA. Midline cerebral dysgenesis, dysfunction of the hypothalamicpituitary axis, and fetal alcohol effects. Arch Neurol 1993;50:771-75
19. Sulik KK, Johnston MC. Sequence of developmental alterations following acute ethanol exposure in mice: Craniofacial features of the fetal alcohol syndrome. Am J Anat 1983;166:257-69
20. Sulik KK, Johnston MC. Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face. Scan Electron Microsc 1982:309-22
21. Siebert JR, Astley SJ, Clarren SK. Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol. Teratology 1991;44:29-36
22. Binns W, Shupe JL, Keeler RF, James LF. Chronologic evaluation of teratogenicity in sheep fed Veratrum californicum. J Am Vet Med Assoc 1965;147:839-42
23. Binns W, James L, Shupe J, Everett G. A congenital cyclopian-type malformation in lambs induced by maternal ingestion of a range plant, Veratrum californicum. Am J Vet Res 1963;24:1164-75
24. Keeler RF, Binns W. Teratogenic compounds of Veratrum californicum (Durand). II. Production of ovine fetal cyclopia by fractions and alkaloid preparations. Can J Biochem 1966;44:829-38
25. Keeler R. Teratogenic effects of cyclopamine and jervine in rats, mice, and hamsters. Proc Soc Exp Biol Med 1975;149:302-6
26. Keeler R. Cyclopamine and relatedsteroidal alkaloid teratogens: Their occurrence, structral relationship, and biologic effects. Lipids 1978;13:708-15
27. Bryden MM, Perry C, Keeler RF. Effects of alkaloids of Veratrum californicum on chick embryos. Teratology 1973;8:19-25
28. Coventry S, Kapur R, Siebert J. Cyclopamine-induced holoprosencephaly and associated craniofacial malfromations in the golden hamster: Anatomic and molecular events. Pediatric and Developmental Pathology 1998;1:29-41
29. Cooper MK, Porter JA, Young KE, Beachy PA. Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 1998;280:1603-7
30. Repetto M, Maziere JC, Citadelle D, et al. Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro. Teratology 1990;42:611-18
31. Roux C, Dupuis R, Horvath C, Talbot JN. Teratogenic effect of an inhibitor of cholesterol synthesis (AY 9944) in rats: Correlation with maternal cholesterolemia. J Nutr 1980;110:2310-12
32. Roux C, Aubry M. [Teratogenic action in the rat of an inhibitor of cholesterol synthesis, AY 9944]. C R Seances Soc Biol Fil 1966;160:1353-57
33. Boles RG, Teebi AS, Neilson KA, Meyn MS. Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia [see comments]. Am J Med Genet 1992;44:638-40
34. Kelley RL, Roessler E, Hennekam RC, et al. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 1996;66:478-84
35. Siebert J, Cohen Mj, Sulik K, Shaw C-M, Lemire R. Holoprosencephaly. An overview and atlas of cases. New York: Wiley-Liss, 1990
36. Camera G, Lituania M, Cohen MM, Jr. Holoprosencephaly and primary craniosynostosis: The Genoa syndrome. Am J Med Genet 1993;47:1161-65
37. Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C. Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality - A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Am J Med Genet 1990;37:119-23
38. Morse RP, Rawnsley E, Sargent SK, Graham JM, Jr. Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia. Prenat Diagn 1987;7:631-38
39. Nothen MM, Knopfle G, Fodisch HJ, Zerres K. Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder. Am J Med Genet 1993;46:467-70
40. Norman M, McGillivray B, Kalousek D, Hill A, Poskitt K. Congenital Malformations of the Brain: Pathological, Embryological. Clinical, Radiolological and Genetic Aspects. New York: Oxford University Press, 1995
41. Roessler E, Muenke M. Holoprosencephaly: A paradigm for the complex genetics of brain development. J Inherit Metab Dis 1998;21:481-97
42. Ming JE, Muenke M. Holoprosencephaly: From Homer to Hedgehog. Clin Genet 1998;53:155-63
43. Belloni E, Muenke M, Roessler E, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genetics 1996;14:353-56
44. Roessler E, Belloni E, Gaudenz K, et al. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997;6:1847-53
45. Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nature Genetics 1996;14:357-60
46. Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996;383:407-13
47. Kundrat H. Arhinencephalie als typische Art von Missbildung Wien Med Bl 1882;5:1395
48. Yakovlev P. Pathoarchitectonic studies of cerebral malformations: III. Arrrhinenecephalies (Holoprosencephaly). J Neuropathol Exp Neurol 1959;18:22-55
49. Mizuguchi M, Morimatsu Y. Histopathological study of alobar holoprosencephaly. 2. Marginal glioneural heterotopia and other gliomesenchymal abnormalities. Acta Neuropathol (Berl) 1989;78: 183-88
50. Kobori JA, Herrick MK, Urich H. Arhinencephaly. The spectrum of associated malformations. Brain 1987;110:237-60
51. Cohen MM, Jr., Sulik KK. Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 1992;12:196-244
52. Kotch L, KK S. Patterns of ethanol-induced cell death in the developing nervous system of mice; Neural fold states through the time of anterior neural tube closure. Int J Dev Neurosci 1992;10: 273-79
53. Muller F, O'Rahilly R. Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 1989;185:391-414
54. Spemann H, Mangold H, Über Induktion von embryonalanlagen durch implantation artfremder Organisatoren. Arch f mikr Anat u Entw Mech 1924;100:599-638
55. Tanabe Y, Jessell T. Diversity and pattern in the developing spinal cord. Science 1996;274:1115-23
56. Jessell T, Lumsden A. Inductive signals and the assignment of cell fate in the spinal cord and hindbrain. An axial coordinate system for neuronal patterning. In: Cowan W, Jessell T, Zipursky S, eds. Molecular and cellular approaches to neural development. New York: Oxford University Press, 1997
57. Basler K, Edlund T, Jessell TM, Yamada T. Control of cell pattern in the neural tube: Regulation of cell differentiation by dorsalin-1, a novel TGF beta family member. Cell 1993;73:687-702
58. Liem KF, Jr., Tremml G, Roelink H, Jessell TM. Dorsal differentiation of neural plate cells induced by BMP-mediated signals from epidermal ectoderm. Cell 1995;82:969-79
59. Liem KF, Jr., Tremml G, Jessell TM. A role for the roof plate and its resident TGFbeta-related proteins in neuronal patterning in the dorsal spinal cord. Cell 1997;91:127-38
60. Dickinson ME, Selleck MA, McMahon AP, Bronner-Fraser M. Dorsalization of the neural tube by the non-neural ectoderm. Development 1995;121:2099-106
61. Ikeya M, Lee SM, Johnson JE, McMahon AP, Takada S. Wnt signalling required for expansion of neural crest and CNS progenitors. Nature 1997;389:966-70
62. Yoshikawa Y, Fujimori T, McMahon AP, Takada S. Evidence that absence of Wnt-3a signaling promotes neuralization instead of paraxial mesoderm development in the mouse. Dev Biol 1997;183: 234-42
63. Kingsley DM, Bland AE, Grubber JM, et al. The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Cell 1992;71: 399-410
64. Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ. Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily [see comments]. Nature 1994;368:639-43
65. Winnier G, Blessing M, Labosky PA, Hogan BL. Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. Genes Dev 1995;9:2105-16
66. Furuta Y, Piston DW, Hogan BL. Bone morphogenetic proteins (BMPs) as regulators of dorsal forebrain development. Development 1997;124:2203-12
67. Shimamura K, Rubenstein JL. Inductive interactions direct early regionalization of the mouse forebrain. Development 1997;124: 2709-18
68. Hynes M, Porter JA, Chiang C, et al. Induction of midbrain dopaminergic neurons by Sonic hedgehog. Neuron 1995;15:35-44
69. Hynes M, Stone DM, Dowd M, et al. Control of cell pattern in the neural tube by the zinc finger transcription factor and oncogene Gli-1. Neuron 1997;19:15-26
70. Pera EM, Kessel M. Patterning of the chick forebrain anlage by the prechordal plate. Development 1997;124:4153-62
71. Ericson J, Muhr J, Placzek M, Lints T, Jessell TM, Edlund T. Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube. Cell 1995;81:747-56
72. Shimamura K, Hartigan D, Martinez S, Puelles L, Rubenstein J. Longitudinal organization of the anterior neural plate and neural tube. Development 1995;121:3923-33
73. Echelard Y, Epstein DJ, St-Jacques B, et al. Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell 1993;75:1417-30
74. Dale JK, Vesque C, Lints TJ, et al. Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm. Cell 1997;90:257-69
75. Macdonald R, Barth K, Xu Q, Holder N, Mikkola I, Wilson S. Midline signalling is required for Pax gene regulation and patterning of the eyes. Development 1995;121:3267-78
76. Rubenstein JL, Beachy PA. Patterning of the embryonic forebrain. Curr Opin Neurobiol 1998;8:18-26
77. Golden J, McFadden K, Beesley J, Grinspan J. Ectopic BMP5 and BMP4 in chick forebrain lead to cyclopia and holoprosencephaly [abstract]. Society for Neuroscience. New Orleans, 1997
78. Halpern ME, Hatta K, Amacher SL, et al. Genetic interactions in zebrafish midline development. Dev Biol 1997;187:154-70
79. Halpern M, Sampath K, Rubinstein A, et al. Cyclops encodes a nodal-related signal that patterns the zebrafish brain and ventral neural tube. Society for Developmental Biology Annual Meeting. Stanford University, Palo Alto California, 1998
80. Rebagliati MR, Toyama R, Haffter P, Dawid IB. Cyclops encodes a nodal-related factor involved in midline signaling [In Process Citation]. Proc Natl Acad Sci USA 1998;95:9932-37
81. Burt DW, Law AS. Evolution of the transforming growth factor-beta superfamily [published erratum appears in Prog Growth Factor Res 1994;5(2): following 261]. Prog Growth Factor Res 1994;5: 99-118
82. Strahle U, Jesuthasan S, Blader P, Garcia-Villalba P, Hatta K, Ingham PW. One-eyed pinhead is required for development of the ventral midline of the zebrafish (Danio rerio) neural tube. Genes Funct 1997;1:131-48
83. Schier AF, Neuhauss SC, Heide KA, Talbot WS, Driever W. The one-eyed pinhead gene functions in mesoderm and endoderm formation in zebrafish and interacts with no tail. Development 1997;124:327-42
84. Hammerschmidt M, Pelegri F, Mullins MC, et al. Mutations affecting morphogenesis during gastrulation and tail formation in the zebrafish, Danio rerio. Development 1996;123:143-51
85. Zhang J, Talbot WS, Schier AF. Positional cloning identifies zebrafish one-eyed pinhead as a permissive EGF-related ligand required during gastrulation. Cell 1998;92:241-51
86. Adelmann H. The problem of cyclopia. Part II. Q Rev Biol 1936;11:284-304
87. Li H, Tierney C, Wen L, Wu JY, Rao Y. A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate. Development 1997;124:603-15
88. Porter JA, Young KE, Beachy PA. Cholesterol modification of hedgehog signaling proteins in animal development. Science 1996;274:255-59
89. Porter JA, Ekker SC, Park WJ, et al. Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain. Cell 1996;86:21-34
90. Willnow TE, Hilpert J, Armstrong SA, et al. Defective forebrain development in mice lacking gp330/megalin. Proc Natl Acad Sci USA 1996;93:8460-64
91. Loftus SK, Morris JA, Carstea ED, et al. Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene [see comments]. Science 1997;277:232-35
92. Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [see comments]. Science 1997;277:228-31
93. Stone DM, Hynes M, Armanini M, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog [see comments]. Nature 1996;384:129-34
94. Marigo V, Scott MP, Johnson RL, Goodrich LV, Tabin CJ. Conservation in hedgehog signaling: Induction of a chicken patched homolog by Sonic hedgehog in the developing limb. Development 1996;122:1225-33
95. Helms JA, Kim CH, Hu D, Minkoff R, Thaller C, Eichele G. Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev Biol 1997;187: 25-35
96. Ekker S, Ungar A, Greenstein P, et al. Patterning activities of vertebrate hedgehog proteins in the developing eye and brain. Current Biology 1995;5:944-55