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. 2014 May 8;16(12):903–912. doi: 10.1038/gim.2014.46

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Copyright © 2014 American College of Medical Genetics and Genomics

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Methylation analysis of ZDBF2-DMR and expression analysis of the ZDBF2 gene. (a) Results of matrix-assisted laser desorption/ionization mass spectrometry analysis. Averages with SD of 24 normal controls are shown in blue. Methylation indexes of the patients showing GOM are indicated in different colors. Units 1 and 2 included two and one CpG sites, respectively. (b) Results of bisulfite sequencing. Normal controls show monoallelic differential methylation, whereas four Beckwith–Wiedemann syndrome (BWS) patients (BWS-s001, BWS-s011, BWS-s023, and BWS-s060) show biallelic methylation. Two parental alleles were distinguished by a SNP (rs1861437). Mat, maternal allele; Pat, paternal allele. (c) Results of expression analysis of the ZDBF2 gene. Three BWS patients (BWS-s001, BWS-s011, and BWS-s113) heterozygous for a coding SNP (rs10932150) with GOM clearly showed biallelic expression; by contrast, two patients with normally methylated differentially methylated region (DMRs) exhibited paternal monoallelic expression (patients BWS-s004 and BWS-s060). gDNA, genomic DNA; GOM, gain of methylation; SNP, single-nucleotide polymorphism.