rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding.
|
27568649 |
2016 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Muenke syndrome: An international multicenter natural history study.
|
26740388 |
2016 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
|
22872265 |
2012 |
rs4647924
|
|
|
0.800 |
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 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes.
|
20707699 |
2010 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.
|
18818193 |
2009 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans.
|
19086028 |
2009 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01).
|
18000976 |
2007 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
|
15915095 |
2005 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively.
|
14613973 |
2004 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
|
11467490 |
2001 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis.
|
10914960 |
2000 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
|
10094188 |
1999 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis.
|
9107244 |
1997 |
rs4647924
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
|
20453470 |
2010 |
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated.
|
9677066 |
1998 |
rs121918487
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |