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Fig. 2 | Clinical Epigenetics

Fig. 2

From: The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Fig. 2

Characterization of DNA methylation in the family under study by genome-wide array analysis. a Violin plots showing distribution of mean CpG methylation level of the whole genome. b Violin plots showing distribution of mean CpG methylation level of 31 gDMRs (number of probes overlapped = 541) demonstrating significant differences in III-1 and III-2 (Additional file 3: Table S1). c Heatmap showing hierarchical clustering of imprinted DMR methylation levels for the parents (II-1 and II-2) and the two siblings (III-1 and III-2) normalized with six control individuals. Clustering is based on CpG methylation levels of 755 probes overlapping with 43 imprinted DMRs, containing at least three informative 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

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Clinical Epigenetics

ISSN: 1868-7083

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