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. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8

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© Russo et al. 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — (Epi)genetic alterations of SRS and BWS borderline (BL) cases assessed by SB, pyrosequencing and MS-MLPA. a Autoradiograms of borderline SRS patients showing a subtle increase in the density of the unmethylated band for H19/IGF2:IG-DMR. In the borderline BWS patients, autoradiograms show a slight increase in density at the methylated alleles at the H19/IGF2:IG-DMR (b, d) and at the unmethylated allele at the KCNQ1OT1:TSS-DMR (c, e). Under each southern lane, methylation indexes (MI) obtained by densitometry quantification are shown and pyrosequencing methylation percentages are provided for the following probes: ICR1 (a); ICR1, H19 promoter and DMR2 (b); ICR2 (c, e); and ICR1 and H19 promoter (d): see Additional file 1: Table S1 and the “Methods” sections for the normal ranges and the thresholds accordingly set up. Aberrant methylation values are shown by bold underlined numbers. The diagrams in f and g show the distribution of MS-MLPA methylation values obtained with the HhaI probes in 50 normal individuals (Additional file 1: Table S1). The horizontal black bars (left to the control methylation distributions) define the interval between the mean value and ±1 to 3 SDs. All values at H19/IGF2:IG-DMR and KCNQ1OT1:TSS-DMR are depicted by dots (red for SRS and blue for BWS). Hypomethylated (SRS), borderline hypomethylated (SRS BL), 15 representative hypermethylated (BWS), and all borderline hypermethylated (BWS BL) are shown in f, while borderline hypomethylated (BWS BL) and 26 representative hypomethylated (BWS) are shown in g. See Additional file 3: Table S3 for the methylation values of all borderline cases. Due to the limited availability of DNA, BWS borderline case 11 was not included in the figure as investigated only by pyrosequencing and MS-MLPA (see Additional file 3: Table S3). h The results for borderline SRS-1 obtained by SB, pyrosequencing, and MS-MLPA on blood and buccal swab DNA. MS-MLPA CNVs are shown, indicating a small sized gain at locus H19/IGF2:IG-DMR