|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father.
|
10574673 |
1999 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2.
|
10541159 |
1999 |
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
|
9475591 |
1998 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
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 |
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 |
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 |
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 |
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
|
8651276 |
1996 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
8644708 |
1996 |
|
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 |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
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 |
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 |
PosttranslationalModification
|
disease |
BEFREE |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, we have identified 10 different mutations in the FGFR2 extracellular immunoglobulin III (IgIII) domain in 50% (16/32) of our Crouzon syndrome patients.
|
7493034 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS.
|
7795583 |
1995 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis).
|
7719345 |
1995 |