|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III.
|
9714439 |
1998 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |
|
Craniofacial dysostosis type 1
|
|
0.710 |
GeneticVariation
|
BEFREE |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |
|
Apert syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
FGFR3 mutations (p.S249C) were found in 8.5% (6/71) of tumors and were significantly associated with FGFR3 protein overexpression (p < 0.001), and unfavourable clinical outcome (p = 0.001).
|
27669755 |
2016 |
|
Congenital Abnormality
|
|
0.010 |
GeneticVariation
|
BEFREE |
More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific FGFR2 mutation (p.Ser351Cys, c.1231 C --> G) with anterior chamber dysgenesis.
|
16158432 |
2005 |
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The S249C mutation in the FGFR3 gene was identified in one out of 101 SCCs (1%); the K600N, K660E, or R248C mutations were not identified.
|
29270870 |
2018 |
|
Craniofacial Dysostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |
|
Pfeiffer Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
|
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
|
10406670 |
1999 |
|
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
|
16418739 |
2006 |
|
Apert syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
|
18391498 |
2008 |
|
PFEIFFER SYNDROME, TYPE III
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
FGFR2 mutations in Pfeiffer syndrome.
|
7719333 |
1995 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
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 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
|
10945669 |
2000 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
|
16844695 |
2006 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
|
9719378 |
1998 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
|
9693549 |
1998 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
|
7719345 |
1995 |
|
Pfeiffer Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |