Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2

Journal of Craniofacial Genetics and Developmental Biology

Volumn 19, Issue 4, 1999, Pages 183-188

  Tsukuno, Mary ^a   Suzuki, Hideaki ^a   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Craniosynostosis syndromes; Dominant inheritance; Postaxial polydactyly

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; MUTANT PROTEIN;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; DNA DETERMINATION; FEMALE; HAPLOTYPE; HUMAN; MALE; NONSENSE MUTATION; POINT MUTATION; POLYDACTYLY; PRIORITY JOURNAL;

ACROCEPHALOSYNDACTYLIA; EXONS; FEMALE; FOOT DEFORMITIES; HAND DEFORMITIES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; POLYDACTYLY; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; RNA SPLICING;

EID: 0033396747     PISSN: 02704145     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Anderson J, Burns HD, Enriquez-Harris P, Wilkie AOM, Heath JK: Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum Mol Genet 7:1475-1483, 1998.
2. Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M: Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nature Genet 14:174-176, 1996.
3. Cohen MM Jr: An etiologic and nosolotic overview of craniosynostosis syndromes. Birth Defects Org Artic Ser 11:137-189, 1975.
4. Cohen MM Jr: Pfeiffer syndrome update, clinical subtypes, and guidelines for differntial diagnosis. Am J Med Genet 45:300-307, 1993.
5. Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM: Skeletal overgrowth and deafness in mice lacking fibroblast growth faetor receptor 3. Nature Genet 12:390-397, 1996.
6. Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P: Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911-921, 1996.
7. Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ: Constitutive receptor activation of Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras. Proc Natl Acad Sci USA 93:7894-7899, 1996.
8. Galzie Z, Kinsella AR, Smith JA: Fibroblast growth factors and their receptors. Biochem Cell Biol 75:669-685, 1997.
9. Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson Weiss syndrome. Hum Mol Genet 4:1387-1390, 1995.
10. Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC: Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet 99:251-255, 1997.
11. Lajeunie E, Ma HW, Bonaventure J, Munnich A, LeMerrer M, Renier D: FGFR2 mutations in Pfeiffer syndrome. Nature Genet 9:108, 1995.
12. Li Y, Mangasarian K, Mansukhani A, Basilico C: Activation of FGF receptors by mutations in the transmembrane domain. Oncogene 14:1397-1406, 1997.
13. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 58:491-498, 1996.
14. Naski MC, Wang Q, Xu J, Ornitz DM: Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nature Genet 13:233-237, 1996.
15. Nguyen HB, Estacion M, Gargus JJ: Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. Hum Mol Genet 6:681-688, 1997.
16. Nielson KM, Friesel R: Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains. J Biol Chem 271:25049-25057, 1996.
17. Oldridge M, Wilkie AOM, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJC, Goldin JH, Winter RM, Reardon W, Malcolm S: Mutations in the third immunoblobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4:1077-1082, 1995.
18. Oldridge M, Zackai EH, McDonald McGinn DM, Iseki S, Morriss-Kay GM, Twigg SRF, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AOM: De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64:446-461, 1999.
19. Park W-J, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW: Novel FGFR2 mutation in Crouzon and Jackson Weiss syndromes show allelic heterogeneity and phonotypic variability. Hum Mol Genet 4:1229-1233, 1995a.
20. Park W-J, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57:321-328, 1995b.
21. Passos-Bueno MR, Sertie AL, Zatz M, Richieri-Costa, A: Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet 71:243-245, 1997.
22. Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P: A common FGFR3 gene mutation in hypochondroplasia. Hum Mol Genet 4:2097-2101, 1995.
23. Raffioni S, Zhu Y-Z, Bradshaw RA, Thompson LM: Effect of transmembrane and kinase domain mutation on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. J Biol Chem 273:35250-35259, 1998.
24. Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ: Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. Proc Natl Acad Sci USA 95:4567-4572, 1998.
25. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotype. Nature Genet 9:173-176, 1995.
26. Sakati N, Nyhan WL, Tisdale WK: A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs. J Pediat 79:104-109, 1971.
27. Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochii DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328, 1995.
28. Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342, 1994.
29. Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet 9:321-328, 1995.
30. Webster MK, Donoghue DJ: Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 15:520-527, 1996.
31. Webster MK, Donoghue DJ: FGFR activation in skeletal disorders: too much of a good thing. Trends Genet :178-182 13:1997, 1997.
32. Webster MK, D'Avis PY, Robertson SC, Donoghue DJ: Profound ligund-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, 1996.
33. Wilkie AOM: Craniosynostosis: genes and mechanisms. Hum Mol Genet 6:1647-1656, 1997.
34. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9:165-171, 1995.