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. 2022 Jun 15;12:21. doi: 10.5334/tohm.696

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Copyright: © 2022 The Author(s)

This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/.

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NUS1 variants are associated with various combination of ataxia, epilepsy, myoclonus and intellectual disability — NUS1 pathogenic variants and related phenotypes. The figure summarizes the pathogenic variants reported in the literature in the NUS1 gene, highlighting their position on the gene, and associated phenotype: ataxia (orange), ID (light blue), or both (green) with epilepsy (upper part of the figure) or without epilepsy (lower part of the figure). Myoclonus was reported in all the listed variants except for c.869G>A (p.Arg290His) (homozygous), and c.743delA (p.Asp248Alafs). The only reported homozygous variant associated with CDG is bolded. Protein domains are labeled. TM: transmembrane. The new variant found in this report (likely pathogenic) is highlighted by the red box.