Evidence map›Paper›PMID 40689678›Full record

ArticleJournal of cellular and molecular medicine2025

ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.

Ruofei Lian, Gongao Wu, Liang Jin, Shichao Zhao, Ling Gan, Lijun Wang, Mengchun Li, Ruirui Liang, Tianming Jia, Yan Dong

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cellular and molecular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Ruofei LianDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Gongao WuDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Liang JinDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Shichao ZhaoDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Ling GanDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Lijun WangDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Mengchun LiDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Ruirui LiangDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Tianming JiaDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yan DongHenan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience, Zhengzhou, China.ORCID 0000-0001-6171-1891

Funding

the Open Project of the Children's Neural Development Engineering Research Center of Henan Province SG201910the Open Research Fund of National Health Commission Key Laboratory of Birth Defects Prevention NHCKLBDP2024012the Open Research of Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center KFKT2021003
6 · The paper itself

Abstract

backgroundThe ADP-ribosylation factor 1 (ARF1) gene encodes a protein which plays a critical role in intra-Golgi transport. Clinical evidence suggests that individuals harbouring variants in the ARF1 gene display a consistent set of phenotypic features, including intellectual disability, microcephaly, epilepsy, and periventricular nodular heterotopia (PVNH).

methodsThis study describes the case of a 6-year and 5-month-old female presenting with focal seizures on a fixed side that were resistant to various anti-seizure medications. The genetic aetiology was elucidated through exome sequencing of the pedigree. The pathogenicity of the identified variant was subsequently assessed using molecular dynamics structural analysis, western blotting, and co-immunoprecipitation techniques.

resultsA de novo variant, c.509T > C (p.Leu170Pro), was detected in the ARF1 gene, and functional analysis demonstrated that this modification is anticipated to hinder its association with the Golgi-localising, γ-adaptin ear homology domain and ARF-binding protein, thereby playing a role in the pathogenesis of the disease.

conclusionThis study introduces the initial instance of ARF1-related disease in China, wherein the patient is without the presence of PVNH. The findings add novel clinical phenotypes to the range of ARF1-related diseases, and an investigation into the potential pathogenic mechanisms of this condition was conducted by confirming the deleterious impacts of the variant.

Indexed as

ADP-Ribosylation Factor 1EpilepsyChildChinaExome SequencingFemaleGenetic Predisposition to DiseaseGolgi ApparatusHumansIntellectual DisabilityMutationPedigreePhenotypeADP-Ribosylation Factor 1ARF1 protein, humanADP‐ribosylation factor 1drug‐refractory epilepsyexome sequencinggene function analysis

Identifiers

PMID40689678
PMCPMC12278334

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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.