Abstract
RASopathies are a clinical spectrum of diseases due to germline mutation in components or regulators of the RASMEK-ERK pathways. They include neurofibromatosis type 1 (NF1), Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Legis syndrome, cardio faciocutaneous syndrome, capillary malformationarteriovenous syndrome, gingival fibromatosis and autoimmune lymphoproliferative syndrome
Highlights
RASopathies are a clinical spectrum of diseases due to germline mutation in components or regulators of the RASMEK-ERK pathways
They include neurofibromatosis type 1 (NF1), Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Legis syndrome, cardio faciocutaneous syndrome, capillary malformationarteriovenous syndrome, gingival fibromatosis and autoimmune lymphoproliferative syndrome [1]
NF1 is due to gene mutation of proximal long arm of chromosome 17 that encodes neurofibromin, a ubiquitously expressed protein, which functions as a RAS-GTPase Activating Protein (RAS-GAP), a negative regulator of RAS activity [3]
Summary
RASopathies are a clinical spectrum of diseases due to germline mutation in components or regulators of the RASMEK-ERK pathways. Issues of relevant interest concern the association with developmental anomalies, tumors development both benign and malignant, specific complications due to the disease and the possible effects on senescence [6]. Many factors have ameliorated prognosis for individual with NF1: higher knowledges and awareness on the disease, early diagnosis, better clinical counseling in reference centers, appropriate surveillance of symptoms, early surgical therapy in growing neurofibromas and better cosmetic treatment [3].
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