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Fig. 2 | Clinical Epigenetics

Fig. 2

From: ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

Fig. 2

Methylation analysis. a Heatmap indicating the Δβ values for 855 CpGs on 78 reported iDMRs examined by EPIC. The methylation levels of CpG sites are classified into nine categories on the basis of Δβ values. A single row indicates a single probe (CpG site). P, patient 1; F, father; and M, mother. b Bisulfite sequencing for CG-A. Left part shows the genomic positions of CG-A, CG-4, and CG-6 within the MEG3/DLK1:IG-DMR and CG-7 within the MEG3:TSS-DMR, based on GRCh37/hg19. Right part shows the bisulfite sequencing data for CG-A. Each line indicates each clone, and filled and open circles represent methylated and unmethylated cytosines at the CpG dinucleotides, respectively. The fourth CpGs highlighted in light green have also been examined by EPIC. Bisulfite sequencing data for CG-4 and CG-7 in patient 1 have been reported previously (Fig. 2C in Kagami et al. [6])

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Clinical Epigenetics

ISSN: 1868-7083

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