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 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
McKusick VA et al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.
|
2. |
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.
|
3. |
Bellus GA et al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
4. |
Shiang R et al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
|
5. |
Rousseau F et al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
6. |
Huggins MJ et al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant.
|
7. |
Chitayat D et al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
|
8. |
Henderson S et al. (2000) Germline and somatic mosaicism in achondroplasia.
|
9. |
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.
|
10. |
Yasoda A et al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.
|
11. |
Van Esch H et al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
|
12. |
Rump P et al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
|
13. |
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.
|
14. |
Natacci F et al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.
|
15. |
Matsushita T et al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
|
16. |
Moloney DM et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.
|
17. |
Meyers GA et al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
18. |
Arnaud-López L et al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.
|
19. |
Singh D et al. (2012) Transforming fusions of FGFR and TACC genes in human glioblastoma.
|
20. |
Rohmann E et al. (2006) Mutations in different components of FGF signaling in LADD syndrome.
|
21. |
Muenke M et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
22. |
Reardon W et al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
23. |
Golla A et al. (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
|
24. |
None (1997) Craniosynostosis: genes and mechanisms.
|
25. |
Hollway GE et al. (1998) Deafness due to Pro250Arg mutation of FGFR3.
|
26. |
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.
|
27. |
Lajeunie E et al. (1999) Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
28. |
Lowry RB et al. (2001) Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
|
29. |
Rannan-Eliya SV et al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
|
30. |
Mansour SL et al. (2009) Hearing loss in a mouse model of Muenke syndrome.
|
31. |
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.
|
32. |
Tavormina PL et al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
33. |
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.
|
34. |
Rousseau F et al. (1996) Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
35. |
Wilcox WR et al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
|
36. |
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.
|
37. |
Brodie SG et al. (1999) Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
|
38. |
Pannier S et al. (2009) Thanatophoric dysplasia caused by double missense FGFR3 mutations.
|
39. |
Lin T et al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II.
|
40. |
Li D et al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester.
|
41. |
Thompson LM et al. (1991) A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
|
42. |
Keegan K et al. (1991) Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.
|
43. |
None (1988) Bone dysplasia 'families'.
|
44. |
Scotet E et al. (1995) The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific.
|
45. |
Rousseau F et al. (1995) Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
46. |
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.
|
47. |
Bellus GA et al. (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
|
48. |
Avraham KB et al. (1994) Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes.
|
49. |
Prinos P et al. (1995) A common FGFR3 gene mutation in hypochondroplasia.
|
50. |
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)
|
51. |
Deng C et al. (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth.
|
52. |
Colvin JS et al. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
|
53. |
Naski MC et al. (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
|
54. |
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.
|
55. |
Bellus GA et al. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
|
56. |
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.
|
57. |
Bergsagel PL et al. (1996) Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma.
|
58. |
Su WC et al. (1997) Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.
|
59. |
Moloney DM et al. (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
|
60. |
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.
|
61. |
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.
|
62. |
Lanning RW et al. (1997) An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.
|
63. |
Prinster C et al. (1998) Comparison of clinical-radiological and molecular findings in hypochondroplasia.
|
64. |
Deutz-Terlouw PP et al. (1998) Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
65. |
Paznekas WA et al. (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
|
66. |
Graham JM et al. (1998) Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
|
67. |
Ramaswami U et al. (1998) Genotype and phenotype in hypochondroplasia.
|
68. |
Naski MC et al. (1998) Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.
|
69. |
Angle B et al. (1998) Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
|
70. |
Brodie SG et al. (1998) Thanatophoric dysplasia type I with syndactyly.
|
71. |
Robin NH et al. (1998) Nonpenetrance in FGFR3-associated coronal synostosis syndrome.
|
72. |
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.
|
73. |
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.
|
74. |
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.
|
75. |
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.
|
76. |
Tsai FJ et al. (1999) Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.
|
77. |
Fofanova OV et al. (1998) A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.
|
78. |
Passos-Bueno MR et al. (1999) Clinical spectrum of fibroblast growth factor receptor mutations.
|
79. |
Cappellen D et al. (1999) Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
80. |
Tsai FJ et al. (1999) Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
|
81. |
Chen L et al. (1999) Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
82. |
Monsonego-Ornan E et al. (2000) The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
83. |
Henderson JE et al. (2000) Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells.
|
84. |
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.
|
85. |
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.
|
86. |
Iwata T et al. (2000) A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.
|
87. |
Saito H et al. (2000) Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.
|
88. |
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.
|
89. |
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.
|
90. |
Sibley K et al. (2001) Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
|
91. |
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.
|
92. |
Iwata T et al. (2001) Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
|
93. |
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.
|
94. |
Karoui M et al. (2001) No evidence of somatic FGFR3 mutation in various types of carcinoma.
|
95. |
Intini D et al. (2001) Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14).
|
96. |
Kimura T et al. (2001) The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas.
|
97. |
Shimizu A et al. (2002) FGFR3 isoforms have distinct functions in the regulation of growth and cell morphology.
|
98. |
None (2002) Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells.
|
99. |
Rasmussen T et al. (2002) FGFR3 dysregulation in multiple myeloma: frequency and prognostic relevance.
|
100. |
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.
|
101. |
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.
|
102. |
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.
|
103. |
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.
|
104. |
Valverde-Franco G et al. (2004) Defective bone mineralization and osteopenia in young adult FGFR3-/- mice.
|
105. |
Cho JY et al. (2004) Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
|
106. |
Su YN et al. (2004) Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
|
107. |
Logié A et al. (2005) Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.
|
108. |
Davidson D et al. (2005) Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis.
|
109. |
Nowroozi N et al. (2005) Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.
|
110. |
Wyrobek AJ et al. (2006) Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.
|
111. |
Hafner C et al. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.
|
112. |
Toydemir RM et al. (2006) A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
|
113. |
Eswarakumar VP et al. (2007) Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.
|
114. |
Riley BM et al. (2007) Impaired FGF signaling contributes to cleft lip and palate.
|
115. |
Wilkie AO et al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
|
116. |
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.
|
117. |
Leroy JG et al. (2007) Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
118. |
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.
|
119. |
García-Vargas A et al. (2008) An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.
|
120. |
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.
|
121. |
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.
|
122. |
Goriely A et al. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
|
123. |
Su N et al. (2010) Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.
|
124. |
He L et al. (2010) Physical basis behind achondroplasia, the most common form of human dwarfism.
|
125. |
He L et al. (2011) FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.
|
126. |
Barroso E et al. (2011) Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
|
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).
|
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.
|
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.
|
130. |
Yamashita A et al. (2014) Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
|
131. |
NCBI article
NCBI 2261
|
132. |
OMIM.ORG article
Omim 134934
|
133. |
Orphanet article
Orphanet ID 121815
|
134. |
Wikipedia article
Wikipedia EN (Fibroblast_growth_factor_receptor_3)
|
Update: Aug. 14, 2020