The RAS/mitogen activated protein kinase (MAPK) pathway
is implicated in growth-factor mediated cell proliferation,
differentiation and cell death Recent studies have revealed
dysregulation of the RAS/MAPK cascade to be the common
molecular basis for congenital multiple anomaly/mental
retardation syndromes: Noonan syndrome, LEOPARD syndrome,
Costello syndrome and CFC syndrome. Neurofibromatosis
type I , which is caused by loss-of-function mutations
of NF1, can also be included in the same disease entity,
while patients with NF1 are not usually associated with
facial dysmorphisms or cardiac anomaly. We suggest that
†Noonan syndrome, LEOPARD syndrome, Costello syndrome,
CFC syndrome, and neurofibromatosis type I may be comprehensively
termed the RAS/MAPK syndromes. |