剪接体是RNA剪接的核心分子机器，其功能失衡可干扰神经发育阶段的基因表达程序。随着全基因组、转录组及长读长测序技术的应用，剪接体相关神经发育障碍的致病谱不断扩展。该综述从核小RNA、核小核糖核蛋白及剪接装配/调控因子3个层级，系统总结相关致病变异的遗传特征、临床表型及分子机制，并进一步探讨剪接体相关疾病的组织选择性、表型异质性，以及新型研究策略与RNA靶向治疗的进展，以期为机制探索和临床研究提供参考。

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.