Figure 3

Hypomethylation coupled to illegitimate expression of MAEL and SYCE1 to diagnose ICF1 syndrome. Uncultured cells from a child born to a consanguineous family with one sick children were used to test the power of these biomarkers. Methylation analysis (A and B) at germline gene promoters indicated on the right was carried out as in Figure 2, from whole blood (A) and buccal swabs (B). Expression analysis of MAEL and SYCE1 (C), the only germline genes to be transcriptionally activated upon hypomethylation, was performed from whole blood samples as in Figure 1. The newborn, a sibling of P3, is now patient P4 after the ICF syndrome was confirmed by sequencing of DNMT3B alleles. Raw data used to built this Figure can be found in Additional file8. WB, Control Whole blood DNA from healthy donor; BS, control buccal swab from healthy donor; Errors bars represent standard error.