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GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol CFC3
Location 15q22.31
Name cardio-facio-cutaneous syndrome 3
Other name(s) CFC syndrome
Corresponding gene MAP2K1
Main clinical features
  • characterized by minor facial anomalies, cardiac defects, ectodermal anomalies and developmental delay, mental retardation
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    cardiovascular
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     10 p100 of CFC, with exons 2 and 3 being mutational hotspots
    Remark(s) MEK1 mutations are more frequent than MEK2 mutations
    Genotype/Phenotype correlations CHD and ocular anomalies seems to be less frequent among MEK1/MEK2 mutated patients compared with BRAF-mutated ones