Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia.
|
29280877 |
2018 |
Pfeiffer Syndrome
|
1.000 |
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 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.
|
20809772 |
2010 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes.
|
27762162 |
2017 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All mutations described so far for other craniosynostotic syndromes with associated limb anomalies--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for Pfeiffer syndrome.
|
7493034 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There were 8 cases of sacrococcygeal eversion, including 2 associated with Apert or Pfeiffer syndrome and fibroblast growth factor receptor 2 (FGFR2) mutations; these have previously been reported.
|
27497702 |
2017 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.
|
25129254 |
2015 |
Pfeiffer Syndrome
|
1.000 |
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 |
Pfeiffer Syndrome
|
1.000 |
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 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
|
11807866 |
2002 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST.
|
11173845 |
2000 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data provide conclusive evidence that the mutational spectrum of FGFR2 mutations in CS and PS is wider than originally thought.
|
16418739 |
2006 |
Pfeiffer Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Since FGF8 maps to the same chromosomal region as FGFR2, has indeed been shown to be a ligand for FGFR2, and has an expression pattern consistent with limb and craniofacial anomalies, we have screened two kindreds with Pfeiffer syndrome that were previously linked to markers from 10q24-25 and a large number of individuals with craniosynostosis and limb anomalies for mutations in the coding sequence of FGF8.
|
9332670 |
1997 |
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since our patient shows typical radiological findings of Pfeiffer syndrome in hands and feet but at the same time lacks several characteristic features such as clinical signs of craniosynostosis and prominent eyes we suggest introducing the term "FGFR2 associated phenotypes" for similar cases.
|
26096994 |
2015 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
|
23532954 |
2013 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome.
|
9279753 |
1997 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The brain anomalies in PS result from the combination of mechanical deformations and intrinsic developmental disorders due to FGFR2 hyperactivity.
|
22987770 |
2012 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2.
|
15523615 |
2004 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients.
|
7719345 |
1995 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal.
|
9150725 |
1997 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene.
|
19066959 |
2009 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III.
|
9714439 |
1998 |
Pfeiffer Syndrome
|
1.000 |
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 |
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing).
|
10394936 |
1999 |