Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fibroblast growth factor receptor 3

The FGFR3 gene encodes an FGF receptor. Mutations of that gene cause several autosomal dominant dysmorphic disorders including achondroplasia and Crouzon syndrome.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Thanatophoric dysplasia 2
FGFR3
Thanatophoric dysplasia 1
FGFR3
Achondroplasia
FGFR3
Crouzon syndrome
FGFR3
Muenke syndrome
FGFR3

References:

1.

Thompson LM et. al. (1991) A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

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2.

Keegan K et. al. (1991) Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.

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3.

None (1988) Bone dysplasia 'families'.

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4.

McKusick VA et. al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

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5.

Meyers GA et. al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

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6.

Scotet E et. al. (1995) The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific.

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7.

Rousseau F et. al. (1995) Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

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8.

Ikegawa S et. al. (1995) Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

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9.

Bellus GA et. al. (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

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10.

Superti-Furga A et. al. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

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11.

Tavormina PL et. al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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12.

Bellus GA et. al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3.

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13.

Shiang R et. al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

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14.

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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15.

Rousseau F et. al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

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16.

Prinos P et. al. (1995) A common FGFR3 gene mutation in hypochondroplasia.

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17.

Tavormina PL et. al. (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

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18.

Nishimura G et. al. (1995) Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

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19.

Deng C et. al. (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth.

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20.

Colvin JS et. al. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

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21.

Naski MC et. al. (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.

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22.

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

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23.

von Gernet S et. al. (1996) Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

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24.

Bellus GA et. al. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

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25.

Rousseau F et. al. (1996) Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

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26.

Pokharel RK et. al. (1996) Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.

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27.

Bergsagel PL et. al. (1996) Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma.

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28.

Muenke M et. al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

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29.

Su WC et. al. (1997) Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.

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30.

Moloney DM et. al. (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

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31.

Perez-Castro AV et. al. (1997) Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene.

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32.

Chesi M et. al. (1997) Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3.

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33.

Reardon W et. al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

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34.

Golla A et. al. (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

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35.

None (1997) Craniosynostosis: genes and mechanisms.

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36.

Lanning RW et. al. (1997) An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.

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37.

Prinster C et. al. (1998) Comparison of clinical-radiological and molecular findings in hypochondroplasia.

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38.

Deutz-Terlouw PP et. al. (1998) Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

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39.

Hollway GE et. al. (1998) Deafness due to Pro250Arg mutation of FGFR3.

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40.

Gripp KW et. al. (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

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41.

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

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42.

Graham JM et. al. (1998) Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

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43.

Ramaswami U et. al. (1998) Genotype and phenotype in hypochondroplasia.

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44.

Wilcox WR et. al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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45.

Naski MC et. al. (1998) Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.

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46.

Angle B et. al. (1998) Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.

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47.

Brodie SG et. al. (1998) Thanatophoric dysplasia type I with syndactyly.

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48.

Robin NH et. al. (1998) Nonpenetrance in FGFR3-associated coronal synostosis syndrome.

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49.

Li C et. al. (1999) A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.

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50.

Lajeunie E et. al. (1999) Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

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51.

Tavormina PL et. al. (1999) A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

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52.

Sawai H et. al. (1999) Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

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53.

El Ghouzzi V et. al. (1999) Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

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54.

Grigelioniené G et. al. (1998) A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

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55.

Huggins MJ et. al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant.

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56.

Chitayat D et. al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

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57.

Brodie SG et. al. (1999) Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

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58.

Tsai FJ et. al. (1999) Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.

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59.

Fofanova OV et. al. (1998) A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

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60.

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

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61.

Cappellen D et. al. (1999) Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

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62.

Tsai FJ et. al. (1999) Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.

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63.

Chen L et. al. (1999) Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

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64.

Monsonego-Ornan E et. al. (2000) The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.

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65.

Henderson JE et. al. (2000) Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells.

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66.

Kitoh H et. al. (1998) Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

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67.

Mortier G et. al. (2000) Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

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68.

Iwata T et. al. (2000) A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.

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69.

Saito H et. al. (2000) Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.

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70.

Bellus GA et. al. (2000) Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

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71.

Shimizu A et. al. (2001) A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells.

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72.

Chen L et. al. (2001) A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.

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73.

Henderson S et. al. (2000) Germline and somatic mosaicism in achondroplasia.

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74.

Sobetzko D et. al. (2000) Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.

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75.

Sibley K et. al. (2001) Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

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76.

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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77.

Iwata T et. al. (2001) Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.

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78.

Roscioli T et. al. (2001) Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

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79.

Karoui M et. al. (2001) No evidence of somatic FGFR3 mutation in various types of carcinoma.

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80.

Intini D et. al. (2001) Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14).

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81.

Kimura T et. al. (2001) The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas.

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82.

Lowry RB et. al. (2001) Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

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83.

Shimizu A et. al. (2002) FGFR3 isoforms have distinct functions in the regulation of growth and cell morphology.

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84.

None (2002) Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells.

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85.

Rasmussen T et. al. (2002) FGFR3 dysregulation in multiple myeloma: frequency and prognostic relevance.

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86.

Lievens PM et. al. (2003) The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.

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87.

Thauvin-Robinet C et. al. (2003) Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

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88.

Hyland VJ et. al. (2003) Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

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89.

Lin T et. al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II.

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90.

Ibrahimi OA et. al. (2004) Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.

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91.

Valverde-Franco G et. al. (2004) Defective bone mineralization and osteopenia in young adult FGFR3-/- mice.

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92.

Cho JY et. al. (2004) Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.

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93.

Yasoda A et. al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.

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94.

Su YN et. al. (2004) Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

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95.

Rannan-Eliya SV et. al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

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96.

Van Esch H et. al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

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97.

Logié A et. al. (2005) Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

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98.

Davidson D et. al. (2005) Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis.

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99.

Nowroozi N et. al. (2005) Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

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100.

Rump P et. al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

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101.

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

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102.

Li D et. al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester.

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103.

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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104.

Hafner C et. al. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

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105.

Heuertz S et. al. (2006) Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

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106.

Toydemir RM et. al. (2006) A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

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107.

Eswarakumar VP et. al. (2007) Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.

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108.

Riley BM et. al. (2007) Impaired FGF signaling contributes to cleft lip and palate.

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109.

Wilkie AO et. al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

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110.

Friez MJ et. al. (2008) Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

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111.

Arnaud-López L et. al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.

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112.

Leroy JG et. al. (2007) Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

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113.

Zankl A et. al. (2008) Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

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114.

Natacci F et. al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

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115.

García-Vargas A et. al. (2008) An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.

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116.

Mansour SL et. al. (2009) Hearing loss in a mouse model of Muenke syndrome.

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117.

Matsushita T et. al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

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118.

Almeida MR et. al. (2009) Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

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119.

Salazar L et. al. (2009) A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells.

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120.

Pannier S et. al. (2009) Thanatophoric dysplasia caused by double missense FGFR3 mutations.

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121.

Goriely A et. al. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

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122.

Su N et. al. (2010) Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.

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123.

He L et. al. (2010) Physical basis behind achondroplasia, the most common form of human dwarfism.

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124.

He L et. al. (2011) FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.

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125.

Barroso E et. al. (2011) Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

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126.

Singh D et. al. (2012) Transforming fusions of FGFR and TACC genes in human glioblastoma.

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127.

Jacky BP et. al. (2013) Identification of fibroblast growth factor receptor 3 (FGFR3) as a protein receptor for botulinum neurotoxin serotype A (BoNT/A).

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128.

Wang H et. al. (2013) A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

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129.

Makrythanasis P et. al. (2014) A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

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130.

Yamashita A et. al. (2014) Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

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Update: Sept. 26, 2018