Evidence map›Paper›PMID 38922778›Full record

ArticleCNS neuroscience & therapeutics2024

Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.

Yilai Han, Jinming Han, Zhen Li, Siqi Chen, Ju Liu, Ruxing Zhou, Shufang Zhao, Dawei Li, Zheng Liu, Yinan Zhao and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in CNS neuroscience & therapeutics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

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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

3 citing papers in PubMed.

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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

12 authors.

Yilai HanDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Jinming HanDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.ORCID 0000-0002-6084-3275
Zhen LiDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Siqi ChenDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Ju LiuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Ruxing ZhouDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Shufang ZhaoDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Dawei LiDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Zheng LiuDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Yinan ZhaoDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Junwei HaoDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.ORCID 0000-0002-3075-5434
Guoliang ChaiDepartment of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.ORCID 0000-0001-9658-6381

Funding

Beijing Municipal Public Welfare Development and Reform Pilot Project for Medical Research Institutes JYY2023-7National Key Research and Development Program of China 2021YFA1101403National Natural Science Foundation of China 82090043National Natural Science Foundation of China 82301526Project for Innovation and Development of Beijing Municipal Geriatric Medical Research Center 11000023T000002041657Project of Construction and Support for high-level Innovative Teams of Beijing Municipal Institutions BPHR20220112Youth Beijing Scholar NO.020
6 · The paper itself

Abstract

aimsColony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressing neurodegenerative disease caused by CSF1R gene mutations. This study aimed to identify and investigate the effect of a novel intronic mutation (c.1754-3C>G) of CSF1R on splicing.

methodsA novel intronic mutation was identified using whole-exome sequencing. To investigate the impact of this mutation, we employed various bioinformatics tools to analyze the transcription of the CSF1R gene and the three-dimensional structure of its encoded protein. Furthermore, reverse transcription polymerase chain reaction (RT-PCR) was performed to validate the findings.

resultsA novel mutation (c.1754-3C>G) in CSF1R was identified, which results in exon 13 skipping due to the disruption of the 3' splice site consensus sequence NYAG/G. This exon skipping event was further validated in the peripheral blood of the mutation carrier through RT-PCR and Sanger sequencing. Protein structure prediction indicated a disruption in the tyrosine kinase domain, with the truncated protein showing significant structural alterations.

conclusionsOur findings underscore the importance of intronic mis-splicing mutations in the diagnosis and management of CSF1R-related leukoencephalopathy.

Indexed as

IntronsLeukoencephalopathiesMutationReceptors, Granulocyte-Macrophage Colony-Stimulating FactorAdultFemaleHumansMaleReceptor, Macrophage Colony-Stimulating FactorRNA SplicingCSF1R protein, humanReceptor, Macrophage Colony-Stimulating FactorReceptors, Granulocyte-Macrophage Colony-Stimulating FactorCSF1R‐related leukoencephalopathyexon skippingintronic mutationRNA splicing

Identifiers

PMID38922778
PMCPMC11194178

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