|
rs374608214
|
|
Pfeiffer Syndrome
|
|
0.010 |
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 |
|
rs121918501
|
|
Pfeiffer Syndrome
|
|
0.020 |
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 |
|
rs121918501
|
|
Pfeiffer Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively.
|
16418739 |
2006 |
|
rs1057519037
|
|
Pfeiffer Syndrome
|
TA |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057519041
|
|
Pfeiffer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1057519044
|
|
Pfeiffer Syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121918491
|
|
Pfeiffer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918503
|
|
Pfeiffer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1358919643
|
|
Pfeiffer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
|
rs1358919643
|
|
Pfeiffer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
|
7795583 |
1995 |
|
rs1434545235
|
|
Pfeiffer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1554927408
|
|
Pfeiffer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs879253719
|
|
Pfeiffer Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs879253721
|
|
Pfeiffer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs886037837
|
|
Pfeiffer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918505
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Two additional patients; one with Apert syndrome and P253R mutation, the other with Pfeiffer syndrome and S267P mutation, also appeared to be homozygous.
|
11484208 |
2001 |
|
rs121918505
|
|
Pfeiffer Syndrome
|
G |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
|
16844695 |
2006 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively.
|
16418739 |
2006 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
|
10945669 |
2000 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
|
10394936 |
1999 |
|
rs1554928884
|
|
Pfeiffer Syndrome
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
|
9719378 |
1998 |