NF1 and Leigh syndrome: In addition, germline mutations in genes involved in the RAS pathway lead to neuro-cardio-facial-cutaneous (NCFC) syndromes (ex: neurofibromatosis 1 (NF1, OMIM 162200) (Brems et al., 2007), Noonan syndrome (NS, OMIM 163950), LEOPARD syndrome (LS, OMIM 151100), cardio-facio-cutaneous syndrome (CFC, OMIM 115150), and Costello syndrome (CS, OMIM 218040) (Pasmant et al., 2009)).