Noonan LEOPARD Costello Cardiofaciocutaneous
PTPN11 50% 90% N/A N/A
RAF1 3-17% <5% N/A N/A
SOS1 10-20% N/A N/A N/A
KRAS <5% N/A N/A rare
NRAS <1% N/A N/A N/A
BRAF <2% <5% N/A 75%
MAP2K1 or MAP2K2 <2% N/A N/A 25%
HRAS N/A N/A 80-90% N/A
SHOC2 <1%a N/A N/A N/A
a5% in cohort negative for other genes known to cause Noonan syndrome Compiled from Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2007 [accessed Nov 30, 2011]
Table 1: RASopathies with cardiac features: molecular etiologies.