Fig. 4 | Nature Communications

Fig. 4

From: BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Fig. 4

Two genomic regions differentially methylated in CSS/NCBRS The top panel illustrates three consecutive probes annotating to the promoter of the KRT8 gene and the first and second intron of two isoforms of KRT18. The region is located in a segment highly enriched for H3K27 acetylation, a marker of active promoters. The methylation levels for every CpG (0–1) is shown using a circle, connected to the adjacent CpGs of the same individual using a line. Control subjects (yellow) show a hemi-methylation pattern in this region. All of the CSS/NCBRS cases show an increase in the methylation level of this segment. The lower panel depicts a segment upstream NFIA, located in a CpG island shore region with active H3K27 acetylation, potentially an active promoter. The region is hypomethylated in the CSS3 and NCBRS cases as compared to the controls; however, no difference is observed between CSS1 and controls for this segment. It is noticeable that one of the two CSS4 subjects shows a hypomethylation pattern similar to CSS3 and NCBRS, whereas the other one tends to be similar to controls and CSS1 subjects

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