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. 2022 Jan 28;30(5):619–627. doi: 10.1038/s41431-022-01046-5

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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. 3 — A Multispecies alignment showing the strong conservation of SMG9 p.Val184 B The predicted SMG9-Val184Ala mutated structure (green) superimposed on the wild-type SMG9 structure (blue) showing a predicted structural alteration. C Plot comparing the proportion of reference reads from allele-specific expression analysis in likely NMD-targeted variants (n = 20) compared to non-protein-truncating variants (n = 27,046) in Patients 1–4. The proportion of reference reads was significantly higher in predicted NMD-targeted variants than other variants, suggesting a functional PTC-induced NMD system in patients. D Volcano plot showing DEGs between the patients and healthy controls. The overall pattern observed was the increased expression of genes in the patient group compared with the control group. The dark blue dots show statistically significant DEGs (FDR padj < 0.05 and |logFC| > = 0.25). The boxes show the genes that display both large magnitude fold-changes (FC) and high statistical significance (FDR padj).