|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
BEFREE |
The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186.
|
7806229 |
1994 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome).
|
25886248 |
2015 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals.
|
17105336 |
2006 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings expand the mutation spectrum of FGFR2, and are valuable for genetic counseling in addition to prenatal diagnosis in patients with Crouzon syndrome.
|
28901406 |
2017 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).
|
15282208 |
2004 |
|
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the potential scaffold function of human CFD1 (NUBP2) in CFD1-depleted HeLa cells by measuring Fe-S enzyme activities or <sup>55</sup>Fe incorporation into Fe-S target proteins.
|
30201724 |
2018 |
|
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 |
Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing.
|
11069376 |
2000 |
|
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 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.
|
16470531 |
2006 |