Spliceosome defects and neurodevelopmental disorders

Xiao-Zhen HUANG, Hong CHEN, Rui-Min CHEN

Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (10) : 1298-1304.

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Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (10) : 1298-1304. DOI: 10.7499/j.issn.1008-8830.2606178
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Spliceosome defects and neurodevelopmental disorders

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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.

Key words

Spliceosome / Pre-mRNA splicing / Neurodevelopmental disorder / Small nuclear RNA / Small nuclear ribonucleoprotein

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Xiao-Zhen HUANG , Hong CHEN , Rui-Min CHEN. Spliceosome defects and neurodevelopmental disorders[J]. Chinese Journal of Contemporary Pediatrics. 2026, 28(10): 1298-1304 https://doi.org/10.7499/j.issn.1008-8830.2606178

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