@article{HUANG2026, 
author = {Xiao-Zhen HUANG and Hong CHEN and Rui-Min CHEN},
title = {Spliceosome defects and neurodevelopmental disorders},
year = {2026},
journal = {Chinese Journal of Contemporary Pediatrics},
volume = {28},
number = {10},
pages = {1298-1304},
keywords = {Spliceosome, Pre-mRNA splicing, Neurodevelopmental disorder, Small nuclear RNA, Small nuclear ribonucleoprotein},
url = {https://www.sciopen.com/article/10.7499/j.issn.1008-8830.2606178},
doi = {10.7499/j.issn.1008-8830.2606178},
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.}
}