|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC.
|
17567882 |
2007 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
|
17483702 |
2007 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome.
|
17366577 |
2007 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This discovery provided a clue to identification of germline mutations in Kirsten-RAS (KRAS), BRAF and mitogen-activated protein kinase kinase 1 and 2 (MAP2K1/MAP2K2) in patients with CFC syndrome.
|
18470943 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Approximately 75% of individuals with CFC have mutations in BRAF.
|
18413255 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast, secondary CoQ10 deficiencies, due to mutations in genes not directly related to ubiquinone biosynthesis (APTX, ETFDH, and BRAF), have been identified in patients with cerebellar ataxia, pure myopathy, and cardiofaciocutaneous syndrome.
|
19096106 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations were identified in seven patients with CFC (two in BRAF, one in KRAS, one in MEK1, two in MEK2 and one in SOS1).
|
18456719 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS.
|
19416762 |
2009 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical review of known individuals with MEK1/MEK2 mutations suggests that these patients show dysmorphic features, ectodermal abnormalities and cognitive deficit similar to what was observed in BRAF-mutated patients and in the general CFCS population.
|
19156172 |
2009 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1, or MEK2.
|
20358587 |
2010 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutation of several genes in the RAS/MAPK (mitogen activated protein kinase) signaling pathway, most commonly BRAF, results in CFC syndrome.
|
20859831 |
2010 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the laboratory protocols and methods that we used to identify mutations in BRAF and MEK1/2 genes as causative for CFC syndrome.
|
20812000 |
2010 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia.
|
20523244 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months.
|
20395089 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in CFC patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and epileptic seizures.
|
21383153 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype.
|
20735442 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome).
|
21871821 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome.
|
24303953 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial features and ectodermal abnormalities.
|
25035421 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS.
|
26842671 |
2016 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations.
|
27569062 |
2016 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL.
|
26855057 |
2016 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The hECTs were created using human cardiomyocytes obtained by directed differentiation of induced pluripotent stem cells derived from a patient with CFCS due to an activating BRAF mutation.
|
26784941 |
2016 |