|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood.
|
9672519 |
1998 |
|
rs121913479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
10587515 |
1999 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R.
|
9718331 |
1998 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study.
|
26377240 |
2015 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families.
|
8742128 |
1996 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia.
|
8078586 |
1994 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No remarkable clinical or radiological differences were evident among the ACH infants and children with G380R, the HCH patients with N540K, and the patients without verified mutations.
|
16355813 |
2005 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In germ-line tissues, the G1138A mutation results in achondroplasia and has one of the highest spontaneous mutation rates in the human genome.
|
19551630 |
2009 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism.
|
22529939 |
2012 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.
|
12297284 |
2002 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor.
|
11518810 |
2001 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses.
|
16575888 |
2006 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism.
|
21324899 |
2011 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs.
|
19789973 |
2009 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia.
|
26686765 |
2016 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism.
|
20624921 |
2010 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in the transmembrane domain of FGFR3 is a germline mutation responsible for most cases of Achondroplasia, a common form of human dwarfism.
|
27040652 |
2016 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Since the Gly380Arg achondroplasia mutation was recognized, similar observations regarding the conserved nature of FGFR mutations and resulting phenotype have been made regarding other skeletal phenotypes, including hypochondroplasia, thanatophoric dysplasia, and Muenke coronal craniosynostosis.
|
10696568 |
2000 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region is detected in only 60-65% of HCH cases.
|
16912704 |
2006 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The vast majority of patients with achondroplasia have a G-->A substitution at position 1138 of the fibroblast growth factor receptor (FGFR3) cDNA sequence, resulting in the substitution of an arginine for a glycine residue at position 380 of the FGFR3 protein.
|
9401015 |
1997 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The vast majority of patients with achondroplasia have a G-to-A transition at position 1138 of the fibroblast growth factor receptor 3 (FGFR3) cDNA sequence, resulting in the Gly-to-Arg substitution at position 380 of the FGFR3 protein.
|
16434832 |
2006 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.
|
23056398 |
2012 |