RAS-pathies: Noonan syndrome and other related diseases. The literature review

Abstract

The present review considers a group of diseases, known as Ras-pathies, formed in 2010. One of its representatives is Noonan syndrome is encountered in the pediatric practice in the first place as a syndrome accompanied by right-hand side cardiological disorders and short stature. The multiple molecular-genetic mechanisms underlying Noonan syndrome are associated with the activity of PTPN11, SOS1, and other genes. The group of RAS-pathies includes, besides Noonan syndrome, type 1 neurofibromatosis, Noonan syndrome with multiple lentigo (LEOPARD), craniofaciocutaneous syndrome, capillary and arteriovenous malformation syndrome, Costello syndrome, and Legius syndrome. All these conditions are associated with the molecular disturbances in the Ras/MAPK cascade that produce the characteristic clinical picture apparent as multiple dysembryogenic stigmata, short stature, cardiac disorders, and predisposition to the neoplastic growth.