|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
|
21834037 |
2011 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).
|
17324647 |
2007 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Germline mutations in the HRAS gene, especially p.(Gly12Ser/Ala), cause Costello Syndrome (CS), a severe congenital disorder.
|
24169525 |
2014 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).
|
16969868 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.
|
20979192 |
2010 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant.
|
28371260 |
2017 |
|
rs104894229
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome.
|
29254681 |
2018 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
|
28455154 |
2017 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004).
|
30885829 |
2019 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
|
rs104894228
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
|
rs121917757
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome.
|
25668678 |
2015 |
|
rs121917757
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
rs104894226
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
|
28371260 |
2017 |
|
rs104894227
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.
|
17979197 |
2008 |