Table 1 Imprinted loci in MLID BWS patients detected by HumanMethylation450 array (Illumina)
MLID BWS1 | MLID BWS2 | MLID BWS3 | MLID BWS4 | MLID BWS5 | Number of patients | |
|---|---|---|---|---|---|---|
Hypomethylated | ||||||
KCNQ1OT1 | ● | ● | ● | ● | ● | 5 |
DIRAS3 | ○ | ● | ○ | – | ○ | 4 |
DIRAS3_Ex2 | ○ | ○ | ○ | – | ○ | 4 |
GNAS-AS1 | ● | ● | ● | – | ● | 4 |
GNAS-XL | ○ | ○ | ○ | – | ○ | 4 |
WRB | – | ○ | ○ | ○ | ○ | 4 |
IGF1R | – | – | ○ | ○ | ○ | 3 |
FAM50B | – | ○ | ○ | – | ○ | 3 |
FANCC | – | ○ | ○ | – | ○ | 3 |
GNAS-A/B | ○ | ○ | ○ | – | – | 3 |
NHP2L1 | – | ○ | ○ | – | ○ | 3 |
MEST | ● | – | – | ● | – | 2 |
ERLIN2 | – | ○ | – | – | ○ | 2 |
MAGEL2 | ○ | – | – | – | ○ | 2 |
MCTS2P | – | – | ○ | – | ○ | 2 |
PPIEL | – | – | – | – | ○ | 1 |
GRB10 | – | – | – | – | ● | 1 |
PEG10 | – | – | – | ○ | – | 1 |
RB1 | ○ | – | – | – | – | 1 |
NDN | – | – | – | – | ○ | 1 |
SNRPN_5′DMR4 | – | – | – | – | ○ | 1 |
SNRPN_variant4 | – | – | – | – | ○ | 1 |
SNRPN/SNURF | – | – | – | – | ● | 1 |
L3MBTL1 | ○ | – | – | – | – | 1 |
Hypermethylated | ||||||
ZDBF2 | ○ | ○ | ○ | – | ○ | 4 |
GNAS-NESP | – | – | ○ | – | – | 1 |