RAS genes play an important role in the mitogen-activated protein kinase-dependent signaling pathway (MAPK), a metabolic pathway that regulates cell proliferation, differentiation, survival and death or apoptosis. Germinal mutations described in some of these genes cause developmental anomalies in the subject (depending on the affected gene), which often overlap clinically, with an autosomal dominant inheritance pattern. Therefore, all patients share a variable degree of intellectual disability, cardiac anomalies, facial dysmorphism, skin anomalies, and predisposition to develop cancer (RASopathies).
- The most widely known pathology in this group is Noonan syndrome, with an estimated incidence between 1/1,000 and 1/2,500 live births.