Table 1 RAS-MAPK genes affected among participants with RASopathies
Molecular testing % (N) | Confirmed variants among those tested | |
|---|---|---|
CFCS | 100% [41] | BRAF (60%) MAP2K1 (MEK1) (28%) MAP2K2 (MEK2) (5%) YWHAZ (5%) Unknown (3%) |
CS | 100% [18] | HRAS (100%) |
NF1 | 70% [50] | NF1 (98%) Unknown (2%) |
NS | 93% [64] | PTPN11 (57%) RAF1 (9%) SOS1 (9%) KRAS (6%) RIT1 (4%) SOS2 (3%) BRAF (3%) PPP1CB (2%) A2ML1 (1%) Unknown (6%) |