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. 2019 Jan 12;21(8):1808–1820. doi: 10.1038/s41436-018-0416-7

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

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Fig. 1 — Characterization of a 120–kb deletion abolishing the KCNQ1 promoter. a Pedigree of family 1. The symbol partitioned in two halves with different filling indicate the proband (II-1) affected by Beckwith–Wiedemann syndrome (BWS) and long QT syndrome 1 (LQTS1). b DNA methylation analysis of IC2 and IC1 by methylation-specific MLPA (MS-MLPA). The histogram shows DNA methylation levels of the proband (II-1) and controls. Numbers indicate the length (nt) of the probes according to the manufacturer's instructions (ME-030, MRC-Holland); 355 is a digestion control probe. c DNA methylation analysis of IC2 and IC1 by pyrosequencing. Each dot represents the methylation value of a single CpG. Ctrl 1 and Ctrl 2 are unrelated healthy individuals; BWS 1 and BWS 2, two further BWS patients with IC2 loss of methylation (LOM). d Copy-number (CN) analysis of KCNQ1 exons in the trio by MLPA. The histograms represent the normalized CN detected with 18 MLPA probes (SALSA MLPA 144 Long QT probemix version A2) hybridizing within the KCNQ1 exons. Exon numbering is according to Lee et al.⁸ e Segregation in the trio of two single-nucleotide variants (SNVs) (SNV2: rs2023818 and SNV3: rs800336) located in the deleted region, as determined by Sanger sequencing, and demonstrating the maternal origin of the deletion. A schematic diagram of the KCNQ1 locus is reported. KCNQ1 (represented by a thin black bar) and KCNQ1OT1 (represented by a thicker blue bar) are transcribed on opposite strands. The pink rectangle highlights the region involved in the deletion. The vertical red lines indicate the location of SNVs 2 and 3 typed for segregation analysis and SNVs 10 and 11 reported in 1f. f Allele-specific expression analysis obtained by typing SNV10: rs2283168 A/G and SNV11: rs2283169 on total RNA from blood leukocytes of the proband. SNV10 and SNV11 are located between exon 1 and exon 2, downstream of the deletion and are present in heterozygosity in the proband. The nucleotides of the single-nucleotide polymorphisms (SNPs) determined by Sanger sequencing in DNA and RNA are reported below each electropherogram. Note the monoallelic expression of KCNQ1.