Figure 2

Illustration of the H19/IGF2 ICR1. Above the line approximate positions of CTCF binding sites are marked with green dots, and OCT4 sites are marked with blue dots. The position of a CpG island in the H19 promoter is shown above the line. Below the line the differentially methylated CpG sites investigated by the routine MLPA kit are marked with red dots, and these sites are not included in the segment from the CpG island (marked as ‘PCR product’) that was investigated by bisulphite treatment followed by subclone sequencing and that contained seven differentially methylated CpG sites. The position of the common ∼1.8 kb microdeletion⁴ associated with BWS is marked with a red bar, and the OCT4 binding site mutation is also shown, as well as the sequencing result of II-3 before and after McrBc digestion of methylated DNA. Please note that the g.2023019A>G mutation corresponds to the T>C mutation on the antisense strand, which was described by¹⁰. The position of CTCF binding sites (CTS) in ICR1 are shown, and of these CTS6 and CTS1 were investigated by next generation bisulphite sequencing.