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Fig. 3 | Clinical Epigenetics

Fig. 3

From: Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Fig. 3

DNA methylation analysis of imprinted DMRs. Heatmap showing imprinted DMR methylation levels of the probands of families 1, 2, and 3 (F1_III-1, F1_III-2, F2_II-3, F3_II-2); their mothers (F1_II-2, F2_I-4, F3_I-2) and siblings (F2_II-2, F3_II-1, F3_II-3); and 12 age-matched control individuals, organized by hierarchical clustering. Clustering is based on CpG methylation levels of 736 probes overlapping with 43 imprinted DMRs, containing at least three CpGs. Maternally methylated germline DMRs are in dark pink; maternally methylated secondary DMRs are in light pink. Paternally methylated germline DMRs are in dark blue; paternally methylated secondary DMRs are in light blue. The KCNQ1OT1:TSS-DMR and the H19/IGF2:IG-DMR diagnostic of BWS are highlighted in green. The VTRNA2-1 DMR has been reported to be polymorphic [24]

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Clinical Epigenetics

ISSN: 1868-7083

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