In addition, we verified by exomeanalysis that the patient did not have any pathogenic variants in the genes associatedwith Noonan Syndrome and other rasopathies (PTPN11,SHOC2, KRAS, CBL,SOS1, RAF1, HRAS,NRAS, RASA1, SPRED1,BRAF, MAP2K1, MAP2K2, RIT1 andRRAS) (Rauen, 2013; Ekvall et al., 2015). The gene discussed is MAP2K2; the disease is Noonan syndrome.