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

American Journal of Medical Genetics

Volumn 85, Issue 1, 1999, Pages 53-65

  Bellus, Gary A ^a,h   Bamshad, Michael J ^b   Przylepa, Kelly A ^c,f   Dorst, John ^c   Lee, Roland R ^c,g   Hurko, Orest ^c   Jabs, Ethylin W ^c   Curry, Cynthia J R ^d   Wilcox, William R ^e   Lachman, Ralph S ^e   Rimoin, David L ^e   Francomano, Clair A ^a,c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Valley Children's Hospital Fresno County   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF COLORADO   (United States)

Author keywords

Dwarfism; FGFR3; Mental retardation; Skin skeletal brain dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; INSULIN; LYSINE; METHIONINE; PROTEIN TYROSINE KINASE;

ACANTHOSIS NIGRICANS; ACHONDROPLASIA; ADOLESCENT; ARTICLE; BONE DYSPLASIA; BRAIN; CASE REPORT; CHILD; FEMALE; GENE; GENE MUTATION; GROWTH RETARDATION; HUMAN; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

ACANTHOSIS NIGRICANS; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT, NEWBORN; LYSINE; MALE; METHIONINE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL;

GENETTA;

EID: 0033516620     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990702)85:1<53::AID-AJMG10>3.0.CO;2-F     Document Type: Article

References (45)

1. Accili D, Barbetti F, Cama A, Kadowaki H, Kadowaki T, Imano E Levy-Toldano R, Taylor SI. 1992. Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans. J Invest Dermatol 98:77S-81S.
2. Angle B, Hersh JH, Christensen KM. 1998. Molecularly proven hypochondroplasia with cloverleaf skull deformity: A novel association. Clin Genet 54:417-420.
3. Baker KM, Olson DS, Harding CO, Pauli RM. 1997. Long-term survival in typical type 1 thanatophoric dysplasia. Am J Med Genet 70:427-436.
4. Bellus GA, McIntosh I, Smith EA, Ayslworth AS, Kaitila I, Horton WA, Greenhaw FA, Hecht JT, Francomano CA. 1995. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10:357-359.
5. Bellus GA, Gaudenz K, Zackai EH, Clark LA, Szabo J, Francomano CA, Muenke M. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
6. Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. 1996. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 12:390-397.
7. Cruz PD, Hud JA. 1992. Excess insulin binding to insulin-like growth factor receptors: proposed mechanism for acanthosis nigricans. J Invest Dermatol 98:825-855.
8. 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.
9. Doherty P, Williams E, Walsh FS. 1995. A soluble chimeric form of the L1 glycoprotein stimulates neurite outgrowth. Neuron 14:57-66.
10. Flier JS. 1985. Metabolic importance of acanthosis nigricans. Arch Dermatol 121:193-194.
11. Galvin BD, Hart KC, Meyer AN, Webster MK. 1996. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras. Proc Natl Acad Sci USA 93:7894-7899.
12. Hecht JT, Francomano CA, Horton WA, Annegers JF. 1987. Mortality in achondroplasia. Am J Hum Genet 41:454-464.
13. Ho KL, Chang CH, Yang SS, Chason JL. 1984. Neuropathologic findings in thanatophoric dysplasia. Arch Neuropathol 63:218-228.
14. Hollway GE, Suthers GK, Battese KM, Turner AM, David DJ, Mulley JC. 1998. Deafness due to Pro250Arg mutation of FGFR3. Lancet 351:877-878.
15. Jabs EW. 1998. Toward understanding the pathogenesis of craniosynosto-sis through clinical and molecular correlates. Clin Genet 54 (suppl. 1):6-13.
16. Legeai-Mallet L, Benoist-Lasselin C, Delezoide AL, 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.
17. MacDonald IM, Hunter AGW, MacLeod PM, MacMurray B. 1989. Growth and development in thanatophoric dysplasia. Am J Med Genet 33:508-512.
18. Meyers GA, Orlow SJ, Munro IR, Pryzlepa KA, Jabs EW. 1995. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-464.
19. Muenke M, Schell U, Hehr A, Robin NR, Losken W, Schinzel A, Pulleyn LI, Rutland P, Reardon W, Malcolm S, Winter RW. 1994. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 8:269-274.
20. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wilkie AO, Zackai EH. 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.
21. Naski MC, Wang Q, Xu J, Ornitz DM. 1996. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 13:233-237.
22. Naski MC, Colvin JS, Coffin JD, Ornitz DM. 1998. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 125:4977-4988.
23. Neilson KM, Freisel R. 1996. Ligand-independent activation of fibroblast growth factor receptors by point mutation in the extracellular, transmembrane and kinase domains. J Biol Chem 271:25049-25057.
24. Peters KG, Werner S, Chen G, Williams LT. 1992. Two FGF receptors are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse. Development 114:233-243.
25. Peters K, Ornitz D, Werner S, Williams L. 1993. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol 155: 423-430.
26. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen MM, Jabs EW. 1996. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 13:492-494.
27. Reid CS, Pyeritz RE, Kopits SE, Maria BL, McPherson RW, Hurko O, Phillips JA. 1987. Cervicomedullary compression in young achondroplastic patients: Value of comprehensive neurologic and respiratory evaluation. J Pediatr 110:522-530.
28. Rimoin DL, Lachman RS. 1993. Genetic disorders of the osseous skeleton. In: Beighton P, editor. McKusick's heritable disorders of connective tissue. 5th ed. St. Louis, MO: Mosby. p557-689.
29. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J-M, Maroteaux P, Le Merrer F, Munnich A. 1994. Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia. Nature 371:252-254.
30. Rousseau F, Saugier P, LeMerrer M, Munnich A, Delezoide AL, Maroteaux, Bonaventure J. 1995. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 10:11-12.
31. Schwartz RA. 1994. Acanthosis nigricans. J Am Acad Dermatol 31:1-19.
32. Schwartz RA, Janniger CK. 1995. Childhood acanthosis nigricans. Cutis 55:337-341.
33. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. 1994. Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia. Cell 8:335-342.
34. Shigematsu H, Takashima S, Otani K, Ieshima A. 1985. Neuropathological and Golgi study on a case of thanatophoric dysplasia. Brain Dev 7:628-632.
35. Su WC, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horton WA, Fu XY. 1997. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386:288-292.
36. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. 1995. Thanatophoric dysplasia (types I & II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-328.
37. Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DI, 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 (FGFR3) gene. Am J Hum Genet 64:722-731.
38. Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK. 1971. Hypochondroplasia. Am J Dis Child 122:95-104.
39. Webster MK, d'Avis PY, Robertson SC, Donoghue DJ. 1996. Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II. Mol Cell Biol 16:4081-4087.
40. Webster MK, Donoghue DJ. 1996. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane point mutation found in achondroplasia. EMBO J 15:520-527.
41. Werner S, Peters KG, Longaker MT, Fuller-Pace F, Banda MJ, Williams LT. 1992. Large induction of keratinocyte growth factor expression in the dermis during wound healing. Proc Natl Acad Sci USA 89:6896-6900.
42. Werner S, Weinberg W, Liao X, Peters KG, Blessing M, Yuspa SH, Weiner RL, Williams LT. 1993. Targeted expression of a dominant-negative FGF receptor mutant in the epidermis of transgenic mice reveals a role of FGF in keratinocyte organization and differentiation. EMBO J 12: 2635-2643.
43. Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL. 1998. Molecular, radiologic and histopathologic correlation in thanatophoric dysplasia. Am J Med Genet 78:274-281.
44. Williams EJ, Furness J, Walsh FS, Doherty P. 1994. Activation of the FGF receptor underlies neurite outgrowth stimulate by L1, N-CAM and N-cadherin. Neuron 13:583-594.
45. Wongmongkolrit T, Bush M, Roessmann U. 1983. Neuropathological findings in thanatophoric dysplasia. Arch Pathol Lab Med 107:132-135.