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

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.

• Authors: Yu Hu, Zhen Tian, Bin Zhao, Chuansheng Dong, Lihua Cao
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 43 Issue 6 Pg. 3973-3977 (Jun 2022) ISSN: 1590-3478 [Electronic] Italy
• PMID: 35348941 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2022. Fondazione Società Italiana di Neurologia.

Chemical References

• Molecular Chaperones
• Nuclear Pore Complex Proteins
• ran-binding protein 2

Topics

• Brain Diseases (genetics)
• Humans
• Leukoencephalitis, Acute Hemorrhagic (genetics)
• Molecular Chaperones (genetics)
• Mutation, Missense
• Nuclear Pore Complex Proteins (genetics)