Craniofacial anomalies: Clinical and molecular perspectives

Annals of the Academy of Medicine Singapore

Volumn 32, Issue 2, 2003, Pages 244-251

  Cohen, M Michael ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Dispatched; Osteogenesis; Osteosarcoma; Pituitary adenoma; Tumor suppressor gene

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; SONIC HEDGEHOG PROTEIN;

ALBRIGHT SYNDROME; BASAL CELL NEVUS SYNDROME; CLEIDOCRANIAL DYSPLASIA; CONFERENCE PAPER; CRANIOFACIAL MALFORMATION; GENE MUTATION; GENE OVEREXPRESSION; GNAS1 GENE; HOLOPROSENCEPHALY; HUMAN; OSSIFYING MYOSITIS; RUNX2 GENE; TUMOR SUPPRESSOR GENE;

EID: 0038006012     PISSN: 03044602     EISSN: 29724066     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (54)

1. Cohen M M Jr. Merging the old skeletal biology with the new. II. Molecular aspects of bone formation and growth. J Craniofac Genet Dev Biol 2000; 20:94-106.
2. Cohen M M Jr. Editorial comment: RUNX genes, neoplasia, and cleidocranial dysplasia. Am J Med Genet 2001; 104:185-8.
3. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36:177-82.
4. Mundlos A, Otto F, Mundlos C, Mulliken J B, Aylsworth A S, Albright S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89:773-9.
5. Cole D E C, Cohen M M Jr. Mutations affecting bone-forming cells. In: Hall BK, editor. Bone: the Osteoblast and Osteocyte. Caldwell, NJ: Telford Press, 1990;1:431-87.
6. Connor J M, Evans D A P. Genetic aspects of fibrodysplasia ossificans progressiva. J Med Genet 1982; 19:35-9.
7. Cohen R B, Hahn G V, Tabas J A, Peeper J, Levitz C L, Sando A, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva: a study of 45 patients. J Bone Joint Surg 1993; 75A:215-9.
8. Connor J M, Skirton H, Lunt P W. A three-generation family with fibrodysplasia ossificans progressiva. J Med Genet 1993; 30:687-9.
9. Kaplan F S, Tabas J A, Gannon F H, Finkel G, Hahn G V, Zasloff M. The histopathology of fibrodysplasia ossificans progressiva: an endochondral process. J Bone Joint Surg 1993; 75A:220-30.
10. Shafritz A B, Shore E M, Gannon F H, Zasloff M A, Taub R, Muenke M, et al. Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med 1996; 335:555-61.
11. Xu M, Shore E M. Mutational screening of the bone morphogenetic protein 4 gene in a family with fibrodysplasia ossificans progressiva. Clin Orthop 1998; 34:53-8.
12. Feldman G, Li M, Martin S, Urbanek M, Urtizberea J A, Fardeau M, et al. Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. Am J Hum Genet 2000; 66:128-35.
13. Lucotte G, Sémonin O, Lut P. Letter to the editor. A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clin Genet 1999; 56:469-70.
14. Sémonin O, Fontaine K, Daviaud C, Ayuso C, Lucotte G. Identification of three novel mutations of the Noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet 2001; 102:314-7.
15. Xu M Q, Feldman G, Le Merrer M, Shugart Y Y, Glaser D L, Utizberea J A, et al. Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). Clin Genet 2000; 58:291-8.
16. Cohen M M Jr, Howell R E. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg 1999; 28:366-71.
17. Cohen M M Jr. Editorial comment: Fibrous dysplasia is a neoplasm. Am J Med Genet 2001; 98:290-3.
18. Cohen M M Jr. Asymmetry: molecular, biologic, embryopathic, and clinical perspectives. Am J Med Genet 2001; 101:292-314.
19. Candeliere G A, Glorieux F H, Prud'Homme J. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 1995; 332:1546-51.
20. Ruther U, Garber C, Komitowski D. Deregulated c-fos expression interferes with normal bone development in transgenic mice. Nature 1987; 325:412-6.
21. Ruther U, Komitowski D, Schubert F R. C-fos expression induces bone tumors in transgenic mice. Oncogene 1989; 4:861-5.
22. Yabut S M Jr, Kenan S, Sissons H A. Malignant transformation of fibrous dysplasia: a case report and review of the literature. Clin Orthop 1988; 228:281-8.
23. Collins M T, Shenker A. McCune-Albright syndrome: new insights. Endocrinol Diabetes 1999; 6:119-25.
24. Cohen M M Jr. On the definition of holoprosencephaly. Am J Med Genet 2001; 103:183-7.
25. DeMyer W E, Zeman W, Palmer C G. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964; 3:256-63.
26. DeMyer W E. Holoprosencephaly (cyclopia-arhinencephaly). In: Vinken P J, Bruyn G W, editors. Handbook of Clinical Neurology. Amsterdam: North-Holland Publishing Co, 1977:431-78.
27. Cohen M M Jr. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 1989; 34:271-88.
28. Barr M Jr, Cohen M M Jr. Autosomal recessive alobarholoprosencephaly with essentially normal faces. Am J Med Genet 2002; 112:28-30.
29. Benke P J, Cohen M M Jr. Recurrence of holoprosencephaly in families with a positive history. Clin Genet 1983; 24:324-8.
30. Cohen M M Jr. Perspectives on holoprosencephaly. Part I. Epidemiology, genetics, and syndromology. Teratology 1989; 40:211-35.
31. Cohen M M Jr, Gorlin R J. Genetic considerations in a sibship of cyclopia and clefts. Birth Defects 1969; 5(2):113-8.
32. Cohen M M Jr, Jirásek J E, Guzman R T, Gorlin R J, Peterson M Q. Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects 1971; 7(7):125-35.
33. Morse R P, Rawnsley E, Sargent S K, Graham J M Jr. Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia. Prenat Diagn 1987; 7:631-8.
34. Hockey A, Crowhurst J, Cullity G. Microcephaly, holoprosencephaly, hypokinesia - second report of a new syndrome. Prenat Diagn 1988; 8:683-6.
35. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer S W, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14:357-60.
36. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer S W, Tsui L-C, et al. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997; 6:1847-53.
37. Nanni L, Ming J E, Bocian M, Steinhaus K, Bianchi D W, Die-Smulders C, et al. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999; 8: 2479-88.
38. Gripp K W, Wotton D, Edwards M C, Roessler E, Adès L, Meinecke P, et al. Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination. Nat Genet 2000; 25: 205-8.
39. Brown S A, Warburton D, Brown L Y, Yu C-Y, Roeder E R, Stengel-Kutkowski S, et al. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 1998; 20:180-3.
40. Brown L Y, Odent S, David V, Glayau M, Dubourg C, Apacik C, et al. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet 2001; 10:791-6.
41. Wallis D E, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999; 22:196-8.
42. Ming J E, Kaupas M E, Roessler E, Brunner H G, Nance W E, Stratton R F, et al. Mutations of PATCHED in holoprosencephaly. Am J Hum Genet 1998; 63:A27.
43. nd Annual Meeting, October 15-19, 2002 Baltimore, Maryland, Abstract No. 132, p. 190.
44. de la Cruz J M, Bamford R N, Burdine R D, Roessler E, Barkovitch A J, Donnai D, et al. A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet 2002; 110:422-8.
45. nd Annual Meeting, October 15-19, 2002 Baltimore, Maryland, Abstract No. 822, p. 313.
46. Kelley R I, Roessler E, Hennekam R C M, Feldman G L, Kosaki K, Jones M C, 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.
47. Cohen M M Jr, Shiota K. Teratogenesis of holoprosencephaly. Am J Med Genet 2002; 109:1-15.
48. Porter J A, Young K E, Beachy P A. Cholesterol modification of hedgehog signaling proteins in animal development. Science 1996; 274:255-9.
49. Pepinsky R B, Zeng C, Wen D, Rayhom P, Baker D P, Williams K P, et al. Identification of a palmitic acid-modified form of human sonic hedgehog. J Biol Chem 1998; 273:14037-45.
50. Chamoun Z, Mann R K, Nellen D, von Kessler D P, Bellotto M, Beachy P A, et al. Skinny hedgehog, an acyltransferase required for palmitoylation and activity of hedgehog signal. Science 2001; 293:2080-4.
51. Burke R, Nellen D, Bellotto M, Hafen E, Senti K-A, Dickson B J, et al. Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells. Cell 1999; 99:803-15.
52. Ingham P W, McMahon A P. Hedgehog signaling in animal development: Paradigms and principles. Genes Dev 2001; 15:3059-87.
53. Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, et al. Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched. Cell 2002; 111:63-75.
54. Cohen M M Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 1999; 28: 216-23.