Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
<b>Conclusion:</b> The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous.
|
29868125 |
2018 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Apert syndrome (AS), the most severe form of craniosynostosis, is caused by missense mutations including Pro253Arg(P253R) of fibroblast growth factor receptor 2 (FGFR2), which leads to enhanced FGF/FGFR2-signaling activity.
|
30321816 |
2018 |
Apert syndrome
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development.
|
28650109 |
2017 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.
|
28123344 |
2017 |
Apert syndrome
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently.
|
24817968 |
2014 |
Apert syndrome
|
|
0.900 |
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
|
|
0.900 |
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
|
|
0.900 |
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
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.
|
23915865 |
2013 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg).
|
17243131 |
2008 |
Apert syndrome
|
|
0.900 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
The pathogenesis of Apert syndrome resulting from P253R mutation of FGFR2 is still not fully understood.
|
18242159 |
2008 |
Apert syndrome
|
|
0.900 |
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 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
|
15190072 |
2004 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology.
|
15282208 |
2004 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis.
|
15041782 |
2003 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
Apert syndrome
|
|
0.900 |
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 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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 |
Apert syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The arginine residue at position 253 in the linker region between the Ig-like domains D2 and D3 in the wild type fly and worm sequences is particularly striking, as the Pro253Arg mutation in humans is responsible for Apert syndrome.
|
11457455 |
2001 |