Evidence map›Paper›PMID 39710814›Full record

SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.

Chaonan Fan, Chanjuan Hao, Kechun Li, Liping Chen, Yeqing Wang, Hengmiao Gao, Wei Li, Suyun Qian

Abstract readSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Chaonan Fan *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.ORCID http://orcid.org/0009-0009-0096-0996
Chanjuan Hao *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.
Kechun LiPediatric 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.
Liping ChenDepartment of Neurobiology, Beijing Institute of Basic Medical Sciences, Beijing, 100850, China.
Yeqing WangPediatric 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.
Hengmiao GaoPediatric 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.
Wei LiBeijing 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.
Suyun QianPediatric 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. syqian2020@163.com.ORCID http://orcid.org/0000-0002-5974-8254

Funding

Beijing Research Ward Project BCRW202101Capital's Funds for Health Improvement and Research of Beijing Children's Hospital, Capital Medical University No. 2020-2-2094
6 · The paper itself

Abstract

backgroundThis 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.

methodsWhole-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.

resultsBesides 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.

conclusionThis study highlights novel RANBP2 mutation sites in ANE children and associates these mutations with higher blood ammonia levels and diverse etiologies.

Indexed as

Leukoencephalitis, Acute HemorrhagicMolecular ChaperonesMutationNuclear Pore Complex ProteinsChildChild, PreschoolExome SequencingFemaleHumansInfantMaleMolecular ChaperonesNuclear Pore Complex Proteinsran-binding protein 2Acute necrotizing encephalopathyChildrenMutation sitesRANBP2

Identifiers

PMID39710814

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.