|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS.
|
30414707 |
2019 |
|
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 |
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 |
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 |
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 |
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 |
Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS.
|
28650561 |
2017 |
|
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 |
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 |
In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS).
|
29084544 |
2017 |
|
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 |
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 |
Although this mutation is one of the most common mutations in CFC, to our knowledge, this is the first molecularly confirmed BRAF mutation causing CFC in siblings.
|
29704308 |
2018 |
|
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 |
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 |
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 |
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 |
Germline mutations in BRAF are a major cause of cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, characteristic craniofacial dysmorphology and dermatologic abnormalities.
|
28973166 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS.
|
31125963 |
2019 |