Spliceosome defects and neurodevelopmental disorders
- 1Department of Endocrinology, Genetics and Metabolism, Fuzhou First General Hospital Affiliated to Fujian Medical University (Fuzhou Children's Hospital of Fujian), Fuzhou 350005, China
Abstract
The spliceosome is the core molecular machinery for RNA splicing, and its dysfunction can disrupt gene expression programs during neurodevelopment. With the widespread application of whole-genome sequencing, transcriptome sequencing, and long-read sequencing, the spectrum of spliceosome-related neurodevelopmental disorders has been continuously expanding. This review summarizes the genetic features, clinical phenotypes, and molecular mechanisms of pathogenic variants at three levels of the spliceosome: small nuclear RNAs, small nuclear ribonucleoproteins, and spliceosome assembly/regulatory factors. It further discusses tissue selectivity and phenotypic heterogeneity of spliceosome-related disorders, and highlights emerging research strategies and advances in RNA-targeted therapies, with the aim of informing mechanistic exploration and clinical research.
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BibTeX
@article{xiaozhen2026spliceosome,
title = {{Spliceosome defects and neurodevelopmental disorders}},
author = {HUANG Xiao-Zhen and CHEN Hong and CHEN Rui-Min},
journal = {中国当代儿科杂志},
year = {2026},
month = oct,
doi = {10.7499/j.issn.1008-8830.2606178},
url = {https://doi.org/10.7499/j.issn.1008-8830.2606178},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Spliceosome defects and neurodevelopmental disorders
AU - HUANG Xiao-Zhen
AU - CHEN Hong
AU - CHEN Rui-Min
PY - 2026
DA - 2026/10/23
JO - 中国当代儿科杂志
DO - 10.7499/j.issn.1008-8830.2606178
UR - https://doi.org/10.7499/j.issn.1008-8830.2606178
AB - The spliceosome is the core molecular machinery for RNA splicing, and its dysfunction can disrupt gene expression programs during neurodevelopment. With the widespread application of whole-genome sequencing, transcriptome sequencing, and long-read sequencing, the spectrum of spliceosome-related neurodevelopmental disorders has been continuously expanding. This review summarizes the genetic features, clinical phenotypes, and molecular mechanisms of pathogenic variants at three levels of the spliceosome: small nuclear RNAs, small nuclear ribonucleoproteins, and spliceosome assembly/regulatory factors. It further discusses tissue selectivity and phenotypic heterogeneity of spliceosome-related disorders, and highlights emerging research strategies and advances in RNA-targeted therapies, with the aim of informing mechanistic exploration and clinical research.
SN - 1008-8830
SN - 2096-9228
ER -