Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

European Journal of Human Genetics

Volumn 14, Issue 3, 2006, Pages 289-298

  Lajeunie, Elisabeth ^a   Heuertz, Solange ^a   El Ghouzzi, Vincent ^a   Martinovic, Jelena ^a   Renier, Dominique ^a   Le Merrer, Martine ^a   Bonaventure, Jacky ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Crouzon syndrome; FGFR1; FGFR2; FGFR3; Mutations; Pfeiffer syndrome

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; GENOMIC DNA; IMMUNOGLOBULIN;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; DNA SEQUENCE; EXON; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SEQUENCE ANALYSIS; STOP CODON; ULTRASOUND;

ACROCEPHALOSYNDACTYLIA; CODON, TERMINATOR; COHORT STUDIES; CRANIOSYNOSTOSES; CYSTEINE; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROGNOSIS; PROTEIN ISOFORMS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 33645144263     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201558     Document Type: Article

References (46)

1. Hall CM: International nosology and classification of Constitutional disorders of bone, 2005, 7th International Skeletal Dysplasia Meeting Martigny, Switzerland.
2. Cohen Jr MM: Pfeiffer syndrome update, clinical subtype and guidelines for differential diagnosis. Am J Med Genet 1993; 45: 300-307.
3. Reardon W, Winter RM, Rutland P et al: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8: 98-102.
4. Jabs EW, Li X, Scott AF et al: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994; 8: 275-279.
5. Lajeunie E, Ma HW, Bonaventure J et al: FGFR2 mutations in Pfeiffer syndrome. Nat Genet 1995; 9: 108.
6. Rutland P, Pulleyn LJ, Reardon W et al: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995; 9: 173-176.
7. Wilkie AOM, Slaney SF, Oldridge M et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9: 165-172.
8. Przylepa KA, Paznekas W, Zhang M et al: Fibroblast Growth Factor Receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 1996; 13: 492-494.
9. Muenke M, Schell U, Hehr A et al: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994; 8: 269-274.
10. Schell U, Hehr A, Feldman GJ et al: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995; 4: 323-328.
11. Moloney DM, Slaney SF, Oldridge M et al: Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48-53.
12. Glaser RL, Jiang W, Boyadjiev SA et al: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon Syndrome and Pfeiffer syndrome. Am J Hum Genet 2000; 66: 768-777.
13. Tartaglia M, Valeri S, Velardi F et al: Trp290cyst mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet 1997; 99: 602-606.
14. Passos-Bueno MR, Wilcox WR, Jabs EW et al: Clinical spectrum of Fibroblast Growth Factor Receptor mutations. Hum Mutat 1999; 14: 115-125.
15. Kan S, Elanko N, Johnson D et al: Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002; 70: 472-486.
16. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW: Fibroblast Growth Factor Receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995; 11: 462-464.
17. Ingersoll RG, Paznekas WA, Tran AK et al: Fibroblast growth factor 2 (FGFR2): Genomic sequence and variations. Cytogenet Cell Genet 2001; 94: 121-126.
18. Lajeunie E, Cameron R, El Ghouzzi V et al: Clinical variability in patients with Apert's syndrome. J Neurosurg 1999; 90: 443-447.
19. Ma HW, Lajeunie E, Le Merrer M et al: No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis. Hum Genet 1995; 96: 731-735.
20. Cornejo-Roldan LR, Roessler E, Muenke M: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999; 104: 425-431.
21. Kress W, Collmann H, Busse M, Halliger-Keller B, Mueller CR: Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet 2000; 91: 134-137.
22. Wilkie AOM, Patey SJ, Kan S-H et al: FGFs, their receptors and human limb malformations: Clinical and molecular correlations. Am J Med Genet 2002; 112: 266-278.
23. Cohen Jr MM: FGFs/FGFRs and associated disorders; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn errors of development. New York: Oxford University press, 2004, pp 380-400.
24. Schaefer F, Anderson C, Can B, Say B: Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet 1998; 75: 252-255.
25. Zackai EH, McDonald-McGinn DM, Stolle C, Huff DS: Craniosynostosis with tracheal sleeve: A patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found. Clin Dysmorphol 2003; 12: 209.
26. Nazarro A, Della Monica M, Lonardo F et al: Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn 2004; 24: 918-922.
27. Shotelersuk V, Ittiwut C, Srivuthana S et al: Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. Am J Med Genet 2002; 113: 4-8.
28. Blaumeiser B, Loquet P, Wuyts W, Nothen MM: Prenatal diagnosis of Pfeiffer syndrome type II. Prenat Diagn 2004; 24: 644-646.
29. Bellus GA, Gaudenz K, Zakai EH et al: Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996; 14: 174-175.
30. Bellus GA, Spector EB, Speiser PW et al: Distinct missense mutations of the FGFR3 Lys 650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 2000; 67: 1411-1421.
31. Gripp KW, Stolle CA, McDonald-McGinn DM et al: Phenotype of the fibroblast growth factor receptor 2 Ser 351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 1998; 78: 356-360.
32. Sweeney E, Ellis I, May P: Sacral appendage associated with a mutation in FGFR2. Clin Dysmorphol 2002; 11: 221-222.
33. Gonzales M, Heuertz S, Martinovic J et al: Vertebral anomalies and cartilagineous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. Clin Genet 2005; 68: 179-181.
34. Reardon W, Smith A, Honour JW et al: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome. J Med Genet 2000; 37: 26-32.
35. Tsai F-J, Wu J-Y, Yang C-F, Tsai C-H: Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. Acta Paediatr 2001; 90: 595-597.
36. Fluck CE, Tajima T, Pandey AY et al: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 2004; 36: 228-230.
37. Robertson SC, Tynan JA, Donoghue DJ: RTK mutations and human syndromes: when good receptors turn bad. Trends Genet 2000; 16: 265-271.
38. Anderson J, Burns HD, Enriquez-Harris P et al: Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum Mol Genet 1998; 7: 1475-1483.
39. Yu K, Herr AB, Waksman G, Ornitz DM: Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc Natl Acad Sci USA 2000; 97: 14536-14541.
40. Ibrahimi OA, Zhang F, Eliseenkova AV et al: Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet 2004; 13: 2313-2324.
41. Del Gatto F, Plet A, Gesnel A et al: Multiple interdependent sequence elements control splicing of a Fibroblast Growth factor Receptor 2 alternative exon. Mol Cell Biol 1997; 17: 5106-5116.
42. Carstens RP, Wagner EJ, Garcia-Blanco MA: An intronic splicing silencer causes skipping of the IIIb exon of fibroblast growth factor receptor 2 through involvement of polypyrimidine tract binding protein. Mol Cell Biol 2000; 20: 7388-7400.
43. Oldridge M, Zackai EH, McDonald-McGinn DM et al: De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 1999; 64: 446-461.
44. Tsukuno M, Suzuki H, Eto T. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. J Craniofac Genet Dev Biol 1999; 19: 183-188.
45. Hajihosseini MK, Wilson D, de Moerlooze L, Dickson C: A splicing switch and gain-of-function mutation in FGFR2-IIIc hemizygotes causes Apert/ Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci USA 2001; 2798: 3855-3860.
46. Eswarakumar VP, Monsonego-Oman E, Pines M et al: The IIIc alternative of FGFR2 is a positive regulator of bone formation. Development 2002; 129: 3783-3793.