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Table 1 Imprinted loci in MLID BWS patients detected by HumanMethylation450 array (Illumina)

From: Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

  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
  1. and aberrant methylation detected by HumanMethylation array (Illumina)
  2. previously known to be hypomethylated