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A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy

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Abstract

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy occurring in otherwise healthy children after common viral infections. The condition presents as a spectrum of symptoms ranging from infections to seizures and coma, with the potential to cause long-term neurocognitive impairment or death. Familial and recurrent ANE is referred to as ANE1. A four-generation Chinese family with ANE1 was recruited for genetic analysis. A novel missense variation, c.9041A > G, p.(Glu3014Gly) in RANBP2 was identified in this family. This study is the first to identify a novel variation in RANBP2 in a Chinese family with ANE1.

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Acknowledgements

We thank all of the family members for participating in the study.

Funding

The study was supported by the Natural Science Foundation of China (81670896). The trial registration number is [2016]18, and the date of registration is Feb 29,2016.

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Author notes

  1. Yu Hu and Zhen Tian contributed equally to this work.

Authors and Affiliations

  1. Center of Reproductive Medicine, Second Affiliated Hospital, Naval Medical University, Shanghai, 200003, China

    Yu Hu

  2. College of Kinesiology, Shenyang Sport University, Shenyang, 110102, Liaoning, China

    Zhen Tian, Bin Zhao & Lihua Cao

  3. School of Management, Shenyang Sport University, Shenyang, 110102, Liaoning, China

    Chuansheng Dong

Authors
  1. Yu Hu
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  2. Zhen Tian
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  3. Bin Zhao
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  4. Chuansheng Dong
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  5. Lihua Cao
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Contributions

All the authors contributed to the study. Material preparation was done by Yu Hu. Experiments and data analysis were performed by Zhen Tian, Bin Zhao and Chuansheng Dong. The study was designed by Lihua Cao. All the authors commented on the previous versions of the manuscript. All the authors read and approved the final manuscript.

Corresponding authors

Correspondence to Chuansheng Dong or Lihua Cao.

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Ethical approval

The study was approved by the ethics committee of Shenyang Sport University. All the procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all the individual participants included in the study.

Conflict of interest

The authors declare no competing interests.

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Hu, Y., Tian, Z., Zhao, B. et al. A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy. Neurol Sci 43, 3973–3977 (2022). https://doi.org/10.1007/s10072-022-06033-8

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  • DOI: https://doi.org/10.1007/s10072-022-06033-8

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