|
Muenke Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS.
|
27683237 |
2017 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
Apert syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.
|
24578066 |
2014 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
|
24497711 |
2013 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
|
24497711 |
2013 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
Muenke Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement.
|
16957473 |
2006 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
|
16957473 |
2006 |
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
|
14613973 |
2004 |
|
Muenke Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
|
Apert syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.
|
14613973 |
2004 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.
|
14564217 |
2003 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
|
14564217 |
2003 |
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.
|
11596961 |
2001 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
|
10861678 |
2000 |
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
|
10861678 |
2000 |
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.
|
10942429 |
2000 |
|
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.
|
10942429 |
2000 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |