Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.
|
30228104 |
2018 |
Craniosynostosis
|
0.700 |
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 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2.
|
10394936 |
1999 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis.
|
22872266 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis.
|
25425289 |
2015 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We propose that this particular FGFR2 mutation only confers a predisposition to craniosynostosis and that an additional environmental insult (in this case foetal head constraint associated with breech position) is necessary for craniosynostosis to occur.
|
10951518 |
2000 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
|
16158432 |
2005 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported.
|
26362256 |
2015 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis.
|
24656465 |
2014 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.
|
11484208 |
2001 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively.
|
14613973 |
2004 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation.
|
22585574 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
|
16955501 |
2006 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The data implies that second-site mutations in FGFR2 itself (outside of exon IIIc) or in other genes may determine specific aspects of the phenotypes of craniosynostosis syndromes.
|
7581378 |
1995 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits.
|
29848297 |
2018 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy.
|
25706251 |
2015 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis.
|
27481450 |
2016 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2.
|
9843049 |
1998 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first large FGFR2 deletion described in any individual with craniosynostosis.
|
18726952 |
2009 |
Craniosynostosis
|
0.700 |
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 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes.
|
9462761 |
1998 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause.
|
22871183 |
2013 |