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. 2018 Nov 2;9:442. doi: 10.3389/fgene.2018.00442

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Copyright © 2018 Fernández, Gennaro, Pirozzi, Baldo, Forzano, Turolla, Faravelli, Gastaldo, Coviello, Grasso and Bagni.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Southern blot and mPCR analysis. (A) Southern blots of Case 1 and Case 2 (lane numbers for these samples are shown in red). Left panel (control in lane 1 and Case 1 in lane 2), analysis upon EcoRI-EagI DNA digestion from leucocytes. Right panels (controls in lanes 3, 5, 7, 9, 10 and Case 2 in lanes 4, 6, 8, 11) analysis upon EcoRI or EcoRI-EagI DNA digestion. Relative number of triplets is noted next to the bands; red text refers to number of triplets belonging to Case 1 and Case 2. ^∗ is used to indicate a methylated premutation (lane 2), while two stars indicate the >200 CGG unmethylated allele. It is notable that, in Case 1 (lane 2), the 170 premutation allele is methylated while the expansion over 200 CGG (full mutation) is unmethylated; in Case 2, the methylated premutation allele of 123 repeats it is not detectable by Southern blot (lane 6 buccal smear). (B) Electropherograms representing CGG repetition alleles (top panel) and methylation percentages (bottom panel) relative to different tissues for Case 1, Case 2, FXS 1, and FXS 2 samples.