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. 2022 Jan 28;7:9. doi: 10.1038/s41525-021-00277-7

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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. 4 — Zoom in TIMMDC1 exon showing two cryptic splice acceptor sites (AGUU) 5′ to the variant. Sequence reads from the parents (II-1 and II-2) and affected children (III-2 and III-6) contain this variant suggesting it drives mis-splicing. SSO1 and SSO2 antisense oligonucleotide target sequences are included and marked with red and green bars, respectively.