Fan Chaonan, Hao Chanjuan, Li Kechun, Chen Liping, Wang Yeqing, Gao Hengmiao, Li Wei, Qian Suyun
Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nan-Li-Shi Road, Beijing, 100045, China.
Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Neurol Sci. 2025 Apr;46(4):1817-1826. doi: 10.1007/s10072-024-07911-z. Epub 2024 Dec 23.
This study investigated RANBP2 mutations in children with acute necrotizing encephalopathy (ANE) and conducted a systematic review of the differences in clinical characteristics between with or without RANBP2 mutations.
Whole-exome sequencing was performed on 19 pediatric ANE patients at Beijing Children's Hospital affiliated to Capital Medical University between 2017 and 2020. A systematic literature review was also conducted on the clinical characteristics and spectrum analysis of RANBP2 mutations.
Besides the common mutation site c.1754 C > T, new mutation sites were identified, including c.7454G > T, c.7474 A > G, c.7807 C > T, c.7918 C > A, and c.872 A > G. These sites are highly conserved. Twenty-four publications describing 38 ANE children were reviewed, of which 22 cases had the RANBP2 mutations. When combined with our study, the data included 54 ANE children aged from 3 months to 120 months, and divided into RANBP2 mutation group (n = 26) and non-mutation group (n = 28). No significant differences were observed in initial presentations, neuroimaging, treatment, or outcomes between these two groups. However, children with RANBP2 mutations had slightly elevated blood ammonia levels and a broader etiological spectrum, especially involving non-influenza pathogens.
This study highlights novel RANBP2 mutation sites in ANE children and associates these mutations with higher blood ammonia levels and diverse etiologies.
本研究调查了急性坏死性脑病（ANE）患儿的RANBP2突变情况，并对有无RANBP2突变患儿的临床特征差异进行了系统综述。
对2017年至2020年期间首都医科大学附属北京儿童医院的19例儿科ANE患者进行全外显子测序。还对RANBP2突变的临床特征和频谱分析进行了系统的文献综述。
除了常见的突变位点c.1754 C>T外，还发现了新的突变位点，包括c.7454G>T、c.7474 A>G、c.7807 C>T、c.7918 C>A和c.872 A>G。这些位点高度保守。回顾了24篇描述38例ANE患儿的文献，其中22例有RANBP2突变。结合我们的研究，数据包括54例年龄在3个月至120个月之间的ANE患儿，分为RANBP2突变组（n = 26）和非突变组（n = 28）。两组在初始表现、神经影像学、治疗或结局方面均未观察到显著差异。然而，RANBP2突变患儿的血氨水平略有升高，病因谱更广，尤其是涉及非流感病原体。
本研究突出了ANE患儿新的RANBP2突变位点，并将这些突变与更高的血氨水平和多种病因联系起来。
