Table 1. Mosaic RASopathies.
Mosaic RASopathy | Gene | Reported mosaic mutations | References |
---|---|---|---|
Keratinocytic epidermal nevus |
HRAS KRAS NRAS (FGFR3) |
G12C, G12V, G13R, Q61L G12D G12D, P34L, Q61R R248C, S249C, G372C |
8
8 8 8 , 14 , 45 |
Keratinocytic epidermal nevus syndrome |
HRAS KRAS (FGFR3) |
G12S G12D R248C, S249C |
19
18 20 - 23 |
Sebaceous nevus |
HRAS KRAS |
A11S, G12C, G12D, G12S, G13R G12D, G12V |
25
25 |
Schimmelpenning syndrome |
HRAS KRAS |
G13R G12D |
25
25 |
Mosaic Costello syndrome |
HRAS |
G12S |
32
,
33
|
Segmental neurofibromatosis type I | NF1 | Various point mutations, deletions, insertions | 38 , 39 |