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. 2022 Jun 7;7:37. doi: 10.1038/s41525-022-00306-z

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© The Author(s) 2022

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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Fig. 1 — a A minigene splice assay was performed with a construct spanning from USH2A intron 11 to intron 13 (6,814 nt), containing either c.2276 G > T or both variants (c.[2256 T > C;2276 G > T]). b A single RT-PCR product of 1112 nt was observed after expression of both splice vectors, indicative of the incorporation of USH2A exons 12 and 13 between RHO exons 3 and 5 in both transcripts. c Sanger sequencing confirmed that USH2A exon 12 and exon 13 were correctly incorporated in the mRNA.