Dr Marialeizia Motta, Ospedale Pediatrico Bambino Gesù, Rome is looking at an entirely new gene for Noonan/CFC called YWHAZ. What makes this interesting is that it is exploring a new direction of interaction in the RAS pathway. We usually see the RAS pathway as a simple 2-dimensional chain of A to B to C to D but in reality it works in 3-dimensions with A, B, C and D also interacting in other directions with other proteins.
The understanding of this complexity will help us to understand some of the variability we see in Noonan syndrome and also why some of the more severe complications arise. At present we do not know how many patients with Noonan/CFC may have this new gene but that will become apparent with this study as the new gene is included in diagnostic panels and NGS screens.
