Some chondrodysplasias with short limbs: Molecular perspectives

American Journal of Medical Genetics

Volumn 112, Issue 3, 2002, Pages 304-313

  Cohen Jr , M Michael ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Achondroplasia; Fibroblast growth factor receptor 3; Hypochondroplasia; Jansen metaphyseal chondrodysplasia; Osteogenesis imperfecta; SADDAN; San Diego platyspondylic dysplasia; Thanatophoric dysplasia; Type I collagen

Indexed keywords

COLLAGEN TYPE 1; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR; PARATHYROID HORMONE RELATED PROTEIN;

ACANTHOSIS NIGRICANS; ACHONDROPLASIA; BONE DYSPLASIA; CHONDRODYSPLASIA; CHONDROPATHY; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; GENE MUTATION; HUMAN; JANSEN METAPHYSEAL CHONDRODYSPLASIA; OSTEOGENESIS IMPERFECTA; PATHOGENESIS; PRIORITY JOURNAL; SAN DIEGO PLATYSPONDYLIC DYSPLASIA; SHORT LIMBED DWARFISM; THANATOPHORIC DWARFISM;

ACHONDROPLASIA; CELL DIFFERENTIATION; CHONDROCYTES; COLLAGEN TYPE I; HUMANS; LIMB DEFORMITIES, CONGENITAL; MODELS, BIOLOGICAL; MUTATION; OSTEOCHONDRODYSPLASIAS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA;

EID: 0037108028     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10780     Document Type: Conference Paper

References (46)

1. Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. 1995a. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 56:368.
2. Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenaw GA, Hecht JT, Francomano CA. 1995b. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10:357-359.
3. Bellus GA, Bamshed MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJR, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. 1999. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet 85:53-65.
4. Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. 1996. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism. Am J Med Genet 63:148-154.
5. Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR. 1999. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. Am J Med Genet 84:476-480.
6. Byers PH, Steiner RD. 1992. Osteogenesis imperfecta. Ann Rev Med 43:269-282.
7. Cohen MM Jr. 1997a. Short-limb skeletal dysplasias and craniosynostosis: what do they have in common? Pediatr Radiol 27:442-446.
8. Cohen MM Jr. 1997b. The child with multiple birth defects, 2nd ed. New York: Oxford University Press.
9. Cohen MM Jr. 1998. Achondroplasia, hypochondroplasia, and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg 27:451-455.
10. Cohen MM Jr. 2000a. Fibroblast growth factor receptor mutations. In: Cohen MM Jr, MacLean RE, editors. Craniosynostosis: diagnosis, evaluation, and management, 2nd ed. New York: Oxford University Press. p 77-94.
11. Cohen MM Jr. 2000b. Thanatophoric dysplasia. In: Cohen MM Jr, MacLean RE, editors. Craniosynostosis: diagnosis, evaluation, and management, 2nd ed. New York: Oxford University Press. p 366-373.
12. Cohen MM Jr. 2000c. Merging the old skeletal biology with the new: I, intramembranous ossification, endochondral ossification, ectopic bone, secondary cartilage, and pathologic considerations. Dev Genet Dev Biol 20:84-93.
13. Cohen MM Jr. 2000d. Merging the old skeletal biology with the new: II, molecular aspects of bone formation and bone growth. J Craniofac Genet Dev Biol 20:94-106.
14. Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911-921.
15. Elejalde BR, de Elejalde MM. 1985. Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis. Am J Med Genet 22:669-683.
16. Givol D, Yayon A. 1992. Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 6:3362-3369.
17. Gorlin RJ, Cohen MM Jr, Hennekam RCM. 2001. Syndromes of the head and neck, 4th ed. New York: Oxford University Press.
18. Johnson DE, Williams LT. 1993. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 60:1-41.
19. Kadler KE. 1995. Extracellular matrix 1: fibril-forming collagens. Protein Profile 2:491-619.
20. Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LHK, Ho C, Mulligan RC, Abou-Samra A-B, Jüppner H, Segre GV, Kronenberg HM. 1996. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663-666.
21. Legeai-Mallet L, Benoist-Lasselin C, Delezoide A-L, Munnich A, Bonaventure J. 1998. Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J Biol Chem 273:13007-13014.
22. Luder HV, Steinmann B. 1997. Teeth in osteogenesis imperfecta: a mirror of genetic collagen defect? In: Cohen MM Jr, Baum BJ, editors. Studies in stomatology and craniofacial biology. Amsterdam: IOS Press. p 209-228.
23. Maroteaux P, Lamy M. 1967. Le diagnostic des nanismes chondrodystrophiques chez les nouveau-nés. Arch Fr Pédiatr 25:241-262.
24. Maroteaux P, Lamy M, Robert J-M. 1967. Le nanisme, thanatophore. Presse Méd 75:2519-2524.
25. Mason IJ. 1994. The ins and outs of fibroblast growth factors. Cell 78:547-552.
26. Muenke M, Francomano CA, Cohen MM Jr, Jabs EW. 1998. Fibroblast growth factor receptor-related skeletal disorders. In: Jameson JL, editor. Principles of molecular medicine. Totowa, NJ: Humana Press. p 1-10.
27. Pantoliano MW, Horlick RA, Springer BA, Van Dyk DE, Tobery T, Wetmore DR, Lear JD, Nahapetian AT, Bradley JD, Sisk WP. 1994. Multivalent ligand-receptor binding interactions in the fibroblast growth factor system produce a cooperative growth factor and heparin mechanism for receptor dimerization. Biochemistry 33:10229-10248.
28. Prinos P, Kilpatrick MW, Tsipouras P. 1995. A novel G346E FGFR3 mutation in achondroplasia. Pediatr Res 37:151A.
29. Robey PG, Fedarko NS, Vetter UK. 1997. The role of in vitro analysis in unraveling the cause and providing the potential cure of osteogenesis imperfecta. In: Cohen MM Jr, Baum BJ, editors. Studies in stomatology and craniofacial biology. Amsterdam: IOS Press. p 229-244.
30. Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A-L, Maroteaux P, Bonventure J, Narcy F, Sanak M. 1995. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 10:11-12.
31. Rousseau F, El Ghouzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. 1996. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type 1 (TD1). Hum Mol Genet 5:509-512.
32. Schipani E, Kruse K, Juppner H. 1995. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100.
33. Seddon AP, Aviezer D, Li L-Y, Böhlen P, Yayon A. 1995. Engineering of fibroblast growth factor: alteration of receptor binding specificity. Biochemistry 34:731-736.
34. Shaoul E, Reich-Slotky R, Berman B, Ron D. 1995. Fibroblast growth factor receptors display both common and distinct signaling pathways. Oncogene 10:1553-1561.
35. Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. 1994. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342.
36. Sillence DO, Senn A, Danks DM. 1979. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101-116.
37. Spivak-Kroizman T, Lemmon MA, Dikic I, Ladbury JE, Pinchasi D, Huang J, Jaye M, Crumley G, Schlessinger J, Lax I. 1994. Heparin-induced oligomerization of FGF molecules is responsible for FGF receptor dimerization activation and cell proliferation. Cell 79:1015-1024.
38. Su W-CS, Kitagawa M, Xma M, Xie B, Garafalo S, Cho J, Deng C, Horton WA, Fu X-Y. 1997. Activation of Stat 1 by mutant fibroblast growth factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386:288-292.
39. Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B. 1995. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 154:215.
40. Szabo JK, Wilkin DJ, Cameron R, Henderson S, Bellus G, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. 1997. The achondroplasia mutation occurs exclusively on the paternally derived fibroblast growth factor receptor 3 (FGFR3) allele. Am J Hum Genet 60(Suppl):2040.
41. Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang R, Wasmuth JJ. 1995a. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 4:2175-2177.
42. Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. 1995b. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-328.
43. Tavormina PL, Bellus GA, Webster MK, Bamshed MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. 1999. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet 64:722-731.
44. Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. 1996. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273:613-622.
45. Wenstrup RJ. 1997. From genes to tissue in osteogenesis imperfecta: a long and winding road. In: Cohen MM Jr, Baum BJ, editors. Studies in stomatology and craniofacial biology. Amsterdam: IOS Press. p 191-207.
46. Wilcox WR, Tavormina PL, Krakow K, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL. 1998. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 78:274-281.