|
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
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion.
|
28027064 |
2017 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
|
28455154 |
2017 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
|
27589201 |
2016 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS.
|
27195699 |
2016 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
|
24169525 |
2014 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
|
24224811 |
2013 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
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
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
|
20658932 |
2011 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
|
21344638 |
2011 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
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 |
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
|
18642361 |
2009 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
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 |
|
rs104894230
|
|
G |
0.840 |
CausalMutation |
CLINVAR |
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 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
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 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894230
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894230
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |