|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg).
|
30160829 |
2018 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene.
|
12476453 |
2003 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied.
|
7702086 |
1995 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach).
|
29323153 |
2018 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The fetal G1138A mutation was detectable in the two achondroplasia-affected pregnancies by the analysis of cf-DNA in maternal plasma using MALDI-TOF MS.
|
17154237 |
2007 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia.
|
20963478 |
2011 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP.
|
17683901 |
2008 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Gly380 --> Arg mutation in the TM domain of fibroblast growth factor receptor 3 (FGFR3) of the RTK family is linked to achondroplasia, the most common form of human dwarfism.
|
16634636 |
2006 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified.
|
21739570 |
2011 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia.
|
10979354 |
2000 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation.McKusick et al. proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia.
|
7670477 |
1995 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We describe a Klinefelter patient (non-mosaic 47,XXY karyotype) who was heterozygous for the classical 1138G>A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is a gain-of-function mutation resulting in achondroplasia.
|
17554105 |
2007 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region.
|
31048079 |
2020 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5.
|
17466614 |
2007 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
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 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common G380R FGFR3 achondroplasia mutation was detected.
|
16475234 |
2006 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
|
22339077 |
2012 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
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 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene.
|
27370225 |
2016 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia.
|
9055906 |
1996 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our findings support the fact that p.G380R is a common mutation among diverse population of the world and like other countries, can be used as a molecular diagnosis marker for achondroplasia in Pakistan.
|
28679403 |
2017 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes.
|
15241680 |
2004 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
|
9001669 |
1996 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |