Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.
|
17603482 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known.
|
26286251 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CTD_human |
We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.
|
17603482 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
All patients with RAF1 mutations had hypertrophic cardiomyopathy.
|
19020799 |
2008 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.
|
17603482 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.
|
23918763 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found a lower incidence of hypertrophic cardiomyopathy in individuals with NSML (27.3%), and NS caused by RAF1 mutations (62.5%).
|
30896080 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RAF1 gene are associated with Noonan syndrome, with a high prevalence of hypertrophic cardiomyopathy (HCM).
|
29271604 |
2018 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy and short stature were found to be more frequently observed in patients with RAF1 mutations.
|
20052757 |
2010 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CTD_human |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Taken together, the results of our study identify the molecular mechanisms by which NS RAF1 mutations cause HCM and reveal downstream effectors that could serve as therapeutic targets for treatment of NS and perhaps other, more common, congenital HCM disorders.
|
31163979 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this issue of the JCI, Wu et al. and Marin et al. describe two new mouse models of inherited disorders of the RAS/MAPK signal transduction pathway that display hypertrophic cardiomyopathy (HCM); the model from the former paper was from a gain-of-function Raf1 mutation, and the model from the latter paper was from a protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) mutated allele encoding Shp2 with impaired catalytic function.
|
21339640 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Ectopically expressed RAF1 mutants from the two HCM hotspots had increased kinase activity and enhanced ERK activation, whereas non-HCM-associated mutants were kinase impaired.
|
17603483 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RAF1 mutations were associated with hypertrophic cardiomyopathy (p<0.001).
|
24534818 |
2014 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.
|
17603482 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines).
|
30024444 |
2018 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy is the second most common and is more often associated with RAF1 mutations.
|
31115199 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
So we first reported a single mutant of RAF1 770C>T with idiopathic HCM in a very early age.
|
27631234 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy.
|
25706034 |
2015 |