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. 2022 Nov 12;27(3):218–226. doi: 10.1007/s10157-022-02294-x

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© The Author(s) 2022

Open AccessThis 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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Fig. 2 — Transcriptional analysis of splicing reporter minigene assay for the variants. The upper part of the figure shows each inserted fragment constructed with individual exons and flanking introns. On the lower left, agarose gel electrophoresis of the RT-PCR product of minigene transcripts in HEK293T cells is shown. The sizes of the DNA marker are indicated to the left of each image. A schematic representation of the splicing outcome is shown on the lower right. Exons are represented by boxes. All PCR products were verified by sequencing. A Variant 1 c.2145A > G showed exon 27 skipping. B Both variants 2 c.2394A > T and 3 c.2394A > G resulted in exon 29 skipping. C Variant 4 c.4687C > T caused normal splicing. D Both variants 5 c.4975A > G and 8 c.4974C > T caused exon 50 skipping. E Variant 6 c.544C > T produced exon 9 skipping. F Variant 7 c.685A > T resulted in both exon 12 skipping and normal splicing

Fig. 2 — Transcriptional analysis of splicing reporter minigene assay for the variants. The upper part of the figure shows each inserted fragment constructed with individual exons and flanking introns. On the lower left, agarose gel electrophoresis of the RT-PCR product of minigene transcripts in HEK293T cells is shown. The sizes of the DNA marker are indicated to the left of each image. A schematic representation of the splicing outcome is shown on the lower right. Exons are represented by boxes. All PCR products were verified by sequencing. A Variant 1 c.2145A > G showed exon 27 skipping. B Both variants 2 c.2394A > T and 3 c.2394A > G resulted in exon 29 skipping. C Variant 4 c.4687C > T caused normal splicing. D Both variants 5 c.4975A > G and 8 c.4974C > T caused exon 50 skipping. E Variant 6 c.544C > T produced exon 9 skipping. F Variant 7 c.685A > T resulted in both exon 12 skipping and normal splicing