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. 2020 Sep 15;10:15135. doi: 10.1038/s41598-020-72089-1

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Minigene assay highlight the pathogenicity of c.3976G > A and a complex regulation in ABCC8 transcription. Every subset of images includes a box scheme of the mRNA analysis results, its representing gel electrophoresis and Sanger sequencing results from the exon junction found. (A) The p.His71Tyr variant located in exon 2 does not alter splicing. (B) The p.Glu100Lys variant located in the exon 3 does not alter splicing. (C) The p.Val477Met variant located in exon 9 does not impair splicing; both exon 9 and exon 10 are detectable. (D) The p.Asp1132Asn variant located in exon 27 induces an exon skipping event. The gel electrophoresis image is cut because two different constructs were tested in the same gel. (E) Exons 11, 20, 21, 22, 24, 25, 26, 31, 32 and 33 were not transcribed in both wild type and variant constructs making it impossible to correctly test the splicing effects of the described variants. Unedited images for all the gels are provided as supplementary material.