Table 3. Multi-layered mutations were observed in the four study subjects with Gorlin syndrome.
gene | case.1 | case.2 | case.3 | case.4 |
---|---|---|---|---|
BCL2 | + | |||
BMP2 | + | + | + | + |
BMP8B | + | + | + | |
BOC | + | + | + | |
CDON | + | + | + | + |
CSNK1A1L | + | + | + | + |
DISP1 | + | + | + | |
DISP2 | + | + | + | + |
FAT4 | + | + | + | + |
GLI2 | + | + | + | |
GLI3 | + | |||
HHAT | + | + | + | |
LRP2 | + | + | + | + |
NPC1 | + | + | + | + |
MTSS1 | + | |||
PTCH2 | + | + | ||
PTCHD2 | + | + | + | |
PTCHD3 | + | + | + | + |
SUFU | + | + | + | + |
RUNX2 | + | |||
STK36 | + | + | ||
WNT9B | + | |||
total number (84) | 15 | 15 | 16 | 17 |
After the validation steps shown in Fig 2, 22 gene alterations were selected from 4 individuals.