Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 237-241

  Passos Bueno, Maria Rita ^a   Sertié, Andréa L ^a   Richieri Costa, Antonio ^b   Alonso, Luís G ^c   Zatz, Mayana ^a   Alonso, Nivaldo ^a   Brunoni, Décio ^c   Ribeiro, Sandra F M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Hospital de Pesquisa e Reabilitação de Lesões Lábio Palatais   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Craniosynostoses; FGFR1; FGFR2; FGFR3; New mutation

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DISEASE PREDISPOSITION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HUMAN; INFECTIOUS MONONUCLEOSIS; PRIORITY JOURNAL; RNA SPLICING;

ACROCEPHALOSYNDACTYLIA; BRAZIL; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; EXONS; FEMALE; GENES, DOMINANT; HUMANS; MALE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE KINASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE ANALYSIS, DNA;

EID: 0031750399     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.0.CO;2-M     Document Type: Article

References (27)

1. Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996): Identical mutations in three different fibroblast growth factor receptor gene in autosomal dominant craniosynostosis syndromes. Nature Genet 14:174-176.
2. Cohen MM Jr (1986): "Craniosynostosis: Diagnosis, Evaluation and Management." New York: Raven Press.
3. Cohen MM (1997): Immunolocalization of transforming growth factor B1, B2 and B3 and insulin-like growth factor I in premature cranial suture fusion. Plast Reconstr Surg 99(Suppl 2):310-316.
4. El Ghouzzi V, Le Merrer M, Perrin-Schimitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin A, Munnich A, Bonaventure J (1997): Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet 15:42-46.
5. Gorlin RJ, Cohen MM, Levin LS (1990): "Syndrome of the Head and Neck." 3rd ed. Oxford University Press, pp 519-539.
6. Gorry MC, Preston RA, White GJ, Zhang Y, Singhal V, Losken HW, Parker MG, Nwokoro NA, Post JC, Erlich GD (1995): Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet 4:1387-1390.
7. Howard TD, Paznekas W, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Delgado CG, Gonzalez-Ramos M, Kline AD, Jabs EW (1997): Mutations in TAVIST, a basic helix-loop-helix trasncription factor, in Saethre-Chotzen syndrome. Nature Genet 15:36-41.
8. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J-I, Charnas LR, Jackson CE, Jaye M (1994): Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet 8:175-179.
9. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R (1993): A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant cranioysnostosis. Cell 75:443-450.
10. Lajeunie E, Ma HW, Bonaventure J, Munnich A, Merrer ML (1995): FGFR2 mutations in Pfeiffer syndrome. Nature Genet 9:108.
11. 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 (1996): 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.
12. Miller S, Dykes DD, Plesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
13. Moloney DM, Slaney SF, Oldridge M, Wall AS, Sahlin P, Stenman G, Wilkie AOM (1996): Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 13:48-53.
14. Muenke M, Gripp KW, McDonald-McGinn M, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adés LC, Hann EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall AS, Wilkie AOM, 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.
15. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM (1994): A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet 8:269-274.
16. Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SRF, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Willkie AOM (1997): Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linked of FGFR2. Hum Mol Genet 6:137-143.
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 (1995): Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4:1077-1082.
18. Park W-J, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW (1995a): Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:1229-1233.
19. Park W-J, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW (1995b): Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57:321-328.
20. Passos-Bueno MR, Richieri-Costa A, Sertié AL (1998): The canonical Apert mutation (S252W) in a Pfeiffer patient. J Med Genet (in press).
21. Passos-Bueno MR, Sertié AL, Zatz M, Richieri-Costa A (1997): 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.
22. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994): Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 8:98-103.
23. Rutland P, Pulleyen LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM (1995): Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9:173-176.
24. Schell U, Heher A, Feldman GJ, Robin NH, Zackai EH, Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M (1995): Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328.
25. Slaney SF, Oldridge M, Hurst JA, Morriss-Kay GM, Hall CM, Poole MD, Wilkie AOM (1996): Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 58:923-932.
26. Steinberger D, Mulliken JB, Müller U (1995): Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum Genet 96:113-115.
27. 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 (1995): Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9:165-172.