Fibroblast growth factor receptor 2
The FGFR2 gene encodes an FGF receptor. Mutations of that gene cause several autosomal dominant dysmorphic disorders including Apert syndrome and Crouzon syndrome.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Reardon W et al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
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2. |
Moloney DM et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.
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3. |
Rohmann E et al. (2006) Mutations in different components of FGF signaling in LADD syndrome.
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4. |
Avraham KB et al. (1994) Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes.
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5. |
Paznekas WA et al. (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
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6. |
Passos-Bueno MR et al. (1999) Clinical spectrum of fibroblast growth factor receptor mutations.
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7. |
Jang JH et al. (2001) Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.
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8. |
Wyrobek AJ et al. (2006) Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.
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9. |
Riley BM et al. (2007) Impaired FGF signaling contributes to cleft lip and palate.
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10. |
Wilkie AO et al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
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11. |
Plotnikov AN et al. (2000) Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
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12. |
Wilkie AO et al. (2001) Genetics of craniofacial development and malformation.
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13. |
Chun K et al. (1998) FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
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14. |
None (1999) Patient described by Chun et al. may not present Antley-Bixler syndrome.
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15. |
Gripp KW et al. (1999) Not Antley-Bixler syndrome.
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16. |
Wilkie AO et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
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17. |
Slaney SF et al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
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18. |
Oldridge M et al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
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19. |
Oldridge M et al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
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20. |
Lajeunie E et al. (1999) Clinical variability in patients with Apert's syndrome.
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21. |
Glaser RL et al. (2003) The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.
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22. |
Mantilla-Capacho JM et al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
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23. |
Andreou A et al. (2006) Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg).
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24. |
Miraoui H et al. (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
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25. |
Reardon W et al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
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26. |
None (1976) The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin.
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27. |
Dionne CA et al. (1992) BEK, a receptor for multiple members of the fibroblast growth factor (FGF) family, maps to human chromosome 10q25.3----q26.
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28. |
Mattei MG et al. (1991) Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26.
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29. |
Dionne CA et al. (1990) Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors.
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30. |
Miki T et al. (1991) Expression cDNA cloning of the KGF receptor by creation of a transforming autocrine loop.
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31. |
Houssaint E et al. (1990) Related fibroblast growth factor receptor genes exist in the human genome.
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32. |
Gorry MC et al. (1995) Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
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33. |
Steinberger D et al. (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.
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34. |
Oldridge M et al. (1995) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
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35. |
None (1995) Craniofacial syndromes: no such thing as a single gene disease.
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36. |
Lajeunie E et al. (1995) FGFR2 mutations in Pfeiffer syndrome.
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37. |
Rutland P et al. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
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38. |
Li X et al. (1995) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
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39. |
Jabs EW et al. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
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40. |
Preston RA et al. (1994) A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.
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41. |
Gilbert E et al. (1993) Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA.
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42. |
None (1993) Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.
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43. |
Ma HW et al. (1995) No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
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44. |
Park WJ et al. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
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45. |
Van Dissel-Emiliani FM et al. (1996) Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in coculture during the perinatal period.
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46. |
Meyers GA et al. (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.
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47. |
Przylepa KA et al. (1996) Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
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48. |
Steinberger D et al. (1996) Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
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49. |
Steinberger D et al. (1996) FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
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50. |
Kerr NC et al. (1996) Type 3 Pfeiffer syndrome with normal thumbs.
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51. |
Hollway GE et al. (1997) Mutation detection in FGFR2 craniosynostosis syndromes.
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52. |
Tartaglia M et al. (1997) Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
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53. |
Steinberger D et al. (1997) A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
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54. |
Deng C et al. (1997) Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development.
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55. |
Tartaglia M et al. (1997) Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
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56. |
Xu X et al. (1998) Fibroblast growth factor receptor 2 (FGFR2)-mediated reciprocal regulation loop between FGF8 and FGF10 is essential for limb induction.
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57. |
Schaefer F et al. (1998) Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
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58. |
Steinberger D et al. (1998) The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
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59. |
Arman E et al. (1998) Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development.
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60. |
Nagase T et al. (1998) Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
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61. |
Passos-Bueno MR et al. (1998) Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
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62. |
Anderson J et al. (1998) Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
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63. |
Gripp KW et al. (1998) Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
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64. |
Passos-Bueno MR et al. (1998) Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
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65. |
Munro CS et al. (1998) Epidermal mosaicism producing localised acne: somatic mutation in FGFR2.
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66. |
Cornejo-Roldan LR et al. (1999) Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
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67. |
Okajima K et al. (1999) Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
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68. |
Arman E et al. (1999) Fgfr2 is required for limb outgrowth and lung-branching morphogenesis.
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69. |
Glaser RL et al. (2000) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
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70. |
Tsukuno M et al. () Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
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71. |
Priolo M et al. (2000) Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
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72. |
Johnson D et al. (2000) A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
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73. |
Pellegrini L et al. (2000) Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin.
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74. |
Yu K et al. (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
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75. |
Hajihosseini MK et al. (2001) A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
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76. |
Ibrahimi OA et al. (2001) Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
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77. |
den Dunnen JT et al. (2001) Nomenclature for the description of human sequence variations.
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78. |
Wong LJ et al. (2001) Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.
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79. |
Kan SH et al. (2002) Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
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80. |
Teebi AS et al. (2002) Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
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81. |
Wang TJ et al. (2002) Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
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82. |
None (2002) Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2.
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83. |
Shotelersuk V et al. (2002) Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.
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84. |
Yeh BK et al. (2003) Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors.
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85. |
Warren SM et al. (2003) The BMP antagonist noggin regulates cranial suture fusion.
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86. |
Goriely A et al. (2003) Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
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87. |
Vargas RA et al. (2003) Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
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88. |
Moore KB et al. (2004) Morphogenetic movements underlying eye field formation require interactions between the FGF and ephrinB1 signaling pathways.
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89. |
Rice R et al. (2004) Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate.
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90. |
Ibrahimi OA et al. (2004) Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
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91. |
Kan R et al. (2004) Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
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92. |
Eswarakumar VP et al. (2004) A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.
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93. |
de Ravel TJ et al. (2005) A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
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94. |
Zankl A et al. (2004) Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
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95. |
Gonzales M et al. (2005) Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
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96. |
McGillivray G et al. (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
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97. |
McCann E et al. (2005) Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
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98. |
Lajeunie E et al. (2006) Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
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99. |
Eswarakumar VP et al. (2006) Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.
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100. |
Pollock PM et al. (2007) Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
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101. |
Easton DF et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci.
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102. |
Hunter DJ et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.
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103. |
Shukla V et al. (2007) RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.
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104. |
Kim Y et al. (2007) Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination.
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105. |
Lew ED et al. (2007) Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.
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106. |
Fonseca R et al. (2008) Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
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107. |
Antoniou AC et al. (2008) Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
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108. |
Dutt A et al. (2008) Drug-sensitive FGFR2 mutations in endometrial carcinoma.
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109. |
Udler MS et al. (2009) FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.
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110. |
Ota S et al. (2009) The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects.
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111. |
Slavotinek A et al. (2009) Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
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112. |
Merrill AE et al. (2012) Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
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113. |
Meyer KB et al. (2013) Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
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114. |
Bagheri-Fam S et al. (2015) FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
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115. |
Orphanet article
Orphanet ID 132262
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116. |
NCBI article
NCBI 2263
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117. |
OMIM.ORG article
Omim 176943
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118. |
Wikipedia article
Wikipedia EN (Fibroblast_growth_factor_receptor_2)
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Update: Aug. 14, 2020