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Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review

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Abstract

Background

Variants of the NUS1 gene have been associated with an extensive spectrum of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorder of glycosylation. It is rarely reported in progressive myoclonus epilepsy (PME).

Methods and results

Herein, we report the case of PME caused by a novel de novo NUS1 missense variant (c.302T>A, p.Met101Lys). In addition, we reviewed the current literature of NUS1-associated PME. At present, five patients with NUS1 variants and PME have been reported in the literature. Due to limited cases reported, the relationship between NUS1 variants and PME is not well-established.

Conclusions

Our case provides further evidence of the role of NUS1 variants in PME. These findings expand the clinical phenotypes of NUS1 variants, which should be included in the PME genetic screening panel.

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Data availability

The raw data presented in this article will be available by the authors, and reasonable requests to access the data should be directed to the corresponding author after legal permission.

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Authors and Affiliations

  1. Epilepsy Center, Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou, 310003, China

    Caihong Ji, Jiajia Zhao, Jianfang Zhang & Kang Wang

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  1. Caihong Ji
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  2. Jiajia Zhao
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  3. Jianfang Zhang
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  4. Kang Wang
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Corresponding author

Correspondence to Kang Wang.

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Ethical approval

The project was approved by the Ethical Committee of the First Affiliated Hospital of Zhejiang University, School of Medicine.

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Written informed consents were obtained from the patient’s parents.

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The authors declare no competing interests.

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Ji, C., Zhao, J., Zhang, J. et al. Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review. Neurol Sci 44, 3495–3498 (2023). https://doi.org/10.1007/s10072-023-06851-4

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  • DOI: https://doi.org/10.1007/s10072-023-06851-4

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