|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2).
|
30251381 |
2018 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
|
24489893 |
2014 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes.
|
24580805 |
2014 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.
|
24489893 |
2014 |
|
Apert syndrome
|
|
0.800 |
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
|
|
0.800 |
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 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
|
23546041 |
2013 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2(+/S252W) and Fgfr2(+/P253R) mice.
|
23519026 |
2013 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.
|
23546041 |
2013 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Bone formation and micro-architecture between 28- and 56-day-old mutant mice and controls were compared to investigate the changes in the mandibular micro-architecture caused by the Fgfr2(S252W/+) mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome.
|
23495007 |
2013 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2).
|
18242159 |
2008 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome.
|
18632557 |
2008 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation.
|
18215098 |
2008 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage.
|
17622301 |
2007 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin.
|
16951439 |
2006 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father.
|
15840724 |
2005 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results show that the S252W mutation in the FGFR2 gene enhances the osteoblast phenotype in human osteoblasts and that a soluble FGFR2 with the S252W mutation controls osteoblast differentiation induced by the S252W mutation through a dominant negative effect on FGFR2 signaling in Apert syndrome.
|
15310757 |
2004 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.
|
14499350 |
2003 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome.
|
15041782 |
2003 |
|
Apert syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation.
|
12019011 |
2002 |
|
Apert syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.
|
11390973 |
2001 |