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. 2017 Aug 1;7:6992. doi: 10.1038/s41598-017-07117-8

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© The Author(s) 2017

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 license, and indicate if changes were made. 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/4.0/.

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In vitro splicing assay for the c.2040 + 5 G > T variant. (A) RT–PCR revealed three products in HEK 293 T cells transfected with the mutant construct and one product for the wild-type construct. Transfection with empty pSPL3 vector and untransfected cells served as controls. NTC, non template control. Schemes of the amplified products are presented on the right of the agarose gel. Grey boxes represent pSPL3 exons and white boxes CDHR1 exons. (B) Sequence analysis showing that one aberrant RT-PCR product from the mutant minigene construct results from skipping of exon 16 and the other aberrant RT-PCR product results from skipping of both exon 15 and 16. The position of the c.2040 + 5 G > T variant is depicted in red. (C) Consequence of the skipping of exon 15 and 16 on protein level. Mutant CDHR1 transcript lacking exons 15 and 16 will contain a premature stop codon (protein translation is shown below DNA sequence in one letter amino-acid code).