Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures.
|
8880573 |
1996 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome.
|
22355256 |
2012 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
|
27028366 |
2016 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome.
|
20163525 |
2010 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
|
27481450 |
2016 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
|
7581378 |
1995 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
|
9700203 |
1998 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report.
|
31640617 |
2019 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
31318164 |
2019 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis.
|
12186468 |
2002 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
|
15523492 |
2005 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome.
|
9475590 |
1998 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2.
|
7719344 |
1995 |
Craniofacial dysostosis type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding.
|
8755573 |
1996 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 2 (FGFR2) <sup>C342Y/+</sup> mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia.
|
29223639 |
2018 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype analyses based on our cohort and previous studies further indicate that in spite of some overlap, PS and CS are preferentially accounted for by two distinct sets of FGFR2 mutations.
|
16418739 |
2006 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.
|
10851026 |
2000 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome.
|
7874170 |
1994 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
|
25867380 |
2015 |