Reproductive Issues in Neurofibromatosis Type 1: An Update

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 [1]. Altogether these syndrome affects 1:1,000 newborns [2]. Each syndrome has distinct clinical aspects, although some characteristics are overlapping needing molecular diagnosis.