Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblasten-Wachstumsfaktor-Rezeptor 2

Das FGFR2-Gen kodiert ein FGF-Rezeptor. Mutationen diese Gens führen zu verschiedenen Dysmorphie Syndromen wie zum Beispiel Apert-Syndrom und Crouzon-Syndrom.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Apert-Syndrom
FGFR2
Antley-Bixler-Syndrom 2
FGFR2

Referenzen:

1.

Reardon W et. al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

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2.

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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3.

Moloney DM et. al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.

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4.

Paznekas WA et. al. (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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5.

Passos-Bueno MR et. al. (1999) Clinical spectrum of fibroblast growth factor receptor mutations.

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6.

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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7.

Rohmann E et. al. (2006) Mutations in different components of FGF signaling in LADD syndrome.

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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.

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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14.

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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15.

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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16.

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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17.

Miki T et. al. (1991) Expression cDNA cloning of the KGF receptor by creation of a transforming autocrine loop.

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18.

Houssaint E et. al. (1990) Related fibroblast growth factor receptor genes exist in the human genome.

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19.

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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20.

Steinberger D et. al. (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

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21.

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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22.

None (1995) Craniofacial syndromes: no such thing as a single gene disease.

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23.

Lajeunie E et. al. (1995) FGFR2 mutations in Pfeiffer syndrome.

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24.

Wilkie AO et. al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

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25.

Rutland P et. al. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

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26.

Li X et. al. (1995) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.

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27.

Jabs EW et. al. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

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28.

Preston RA et. al. (1994) A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

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29.

Reardon W et. al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

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30.

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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31.

None (1993) Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

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32.

Ma HW et. al. (1995) No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.

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33.

Park WJ et. al. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

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34.

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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35.

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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36.

Slaney SF et. al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

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37.

Przylepa KA et. al. (1996) Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

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38.

Steinberger D et. al. (1996) Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

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39.

Steinberger D et. al. (1996) FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

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40.

Kerr NC et. al. (1996) Type 3 Pfeiffer syndrome with normal thumbs.

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41.

Oldridge M et. al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

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42.

Hollway GE et. al. (1997) Mutation detection in FGFR2 craniosynostosis syndromes.

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43.

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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44.

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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45.

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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46.

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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47.

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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48.

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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49.

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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50.

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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51.

Nagase T et. al. (1998) Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.

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52.

Chun K et. al. (1998) FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

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53.

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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54.

Anderson J et. al. (1998) Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

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55.

Gripp KW et. al. (1998) Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

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56.

Passos-Bueno MR et. al. (1998) Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

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57.

Munro CS et. al. (1998) Epidermal mosaicism producing localised acne: somatic mutation in FGFR2.

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58.

Oldridge M et. al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

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59.

Lajeunie E et. al. (1999) Clinical variability in patients with Apert's syndrome.

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60.

None (1999) Patient described by Chun et al. may not present Antley-Bixler syndrome.

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61.

Gripp KW et. al. (1999) Not Antley-Bixler syndrome.

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62.

Cornejo-Roldan LR et. al. (1999) Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

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63.

Okajima K et. al. (1999) Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

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64.

Arman E et. al. (1999) Fgfr2 is required for limb outgrowth and lung-branching morphogenesis.

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65.

Glaser RL et. al. (2000) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

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66.

Tsukuno M et. al. () Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.

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67.

Priolo M et. al. (2000) Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

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68.

Johnson D et. al. (2000) A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

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69.

Pellegrini L et. al. (2000) Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin.

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70.

Yu K et. al. (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

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71.

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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72.

Ibrahimi OA et. al. (2001) Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

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73.

den Dunnen JT et. al. (2001) Nomenclature for the description of human sequence variations.

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74.

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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75.

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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76.

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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77.

Wang TJ et. al. (2002) Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

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78.

None (2002) Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2.

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79.

Shotelersuk V et. al. (2002) Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

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80.

Yeh BK et. al. (2003) Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors.

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81.

Warren SM et. al. (2003) The BMP antagonist noggin regulates cranial suture fusion.

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82.

Goriely A et. al. (2003) Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

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83.

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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84.

Vargas RA et. al. (2003) Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

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85.

Moore KB et. al. (2004) Morphogenetic movements underlying eye field formation require interactions between the FGF and ephrinB1 signaling pathways.

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86.

Rice R et. al. (2004) Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate.

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87.

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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88.

Kan R et. al. (2004) Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

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89.

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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90.

de Ravel TJ et. al. (2005) A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

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91.

Zankl A et. al. (2004) Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

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92.

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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93.

McGillivray G et. al. (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

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94.

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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95.

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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96.

Mantilla-Capacho JM et. al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

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97.

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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98.

Eswarakumar VP et. al. (2006) Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.

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99.

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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100.

Easton DF et. al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci.

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101.

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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102.

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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103.

Kim Y et. al. (2007) Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination.

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104.

Lew ED et. al. (2007) Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

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105.

Fonseca R et. al. (2008) Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

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106.

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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107.

Dutt A et. al. (2008) Drug-sensitive FGFR2 mutations in endometrial carcinoma.

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108.

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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109.

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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110.

Slavotinek A et. al. (2009) Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

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111.

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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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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