Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Apert syndrome
FGFR2
Antley-Bixler syndrome 2
FGFR2

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 external link
116.

NCBI article

NCBI 2263 external link
117.

OMIM.ORG article

Omim 176943 external link
118.

Wikipedia article

Wikipedia EN (Fibroblast_growth_factor_receptor_2) external link
Update: Aug. 14, 2020
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