|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.
|
23791108 |
2013 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To investigate how germline RIT1 mutations cause NS, we generated knock-in mice that carried a NS-associated Rit1 A57G mutation (Rit1<sup>A57G/+</sup>).
|
30898653 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.
|
28347726 |
2017 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, missense mutations in RIT1 have been reported as causative for individuals with clinical signs of NS.
|
26518681 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1.
|
31368652 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have recently identified mutations in RIT1 in patients with NS.
|
26714497 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Because of the relatively high frequency of mutations in RIT1 among patients with NS and its occurrence in different populations, we suggest that it should be added to the list of genes included in panels for the molecular diagnosis of NS through targeted next-generation sequencing.
|
25124994 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
|
Noonan Syndrome
|
0.900 |
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 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome.
|
25959749 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recent studies revealed that germ-line and somatic RIT1 mutations can cause Noonan syndrome (NS), and drive proliferation of lung adenocarcinomas, respectively, akin to RAS mutations in these diseases.
|
27226556 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%).
|
31219622 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We used an isogenic germline knock-in mouse model to study the effects of RIT1 mutation at the organismal level, which resulted in a phenotype resembling Noonan syndrome.
|
30872527 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively.
|
29734338 |
2018 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
|
NOONAN SYNDROME 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
|
25959749 |
2016 |
|
Cardiomyopathies
|
0.310 |
GeneticVariation
|
group |
BEFREE |
Compared with the canonical Noonan phenotype linked to PTPN11 mutations, patients with RIT1 mutations appear to be less severely growth retarded and more frequently affected by cardiomyopathy.
|
26757980 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlation analyses of previously reported NS patients harboring RIT1, PTPN11, SOS1, RAF1, and KRAS revealed that hypertrophic cardiomyopathy (56 %) was more frequent in patients harboring a RIT1 mutation than in patients harboring PTPN11 (9 %) and SOS1 mutations (10 %).
|
26714497 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.130 |
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 |
|
Blepharoptosis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
These results delineate the clinical manifestations of RIT1 mutation-positive NS patients: high frequencies of hypertrophic cardiomyopathy, atrial septal defects, and pulmonary stenosis; and lower frequencies of ptosis and short stature.
|
26714497 |
2016 |
|
Dwarfism
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Short stature (52 %) was less prevalent in patients harboring RIT1 mutations than in patients harboring PTPN11 (71 %) and RAF1 (83 %) mutations.
|
26714497 |
2016 |