位于14q32.2（DLK1-DIO3）和15q11-q13（SNURF-SNRPN）的印记基因位点是已知的最大的小核糖核酸簇，分别从亲母和亲父等位基因表达。最近的研究表明，位于15q11-q13的SNORD115-SNORD116 C/D盒小核糖核酸在普拉德-威利综合征（PWS）这种神经发育障碍中起着重要作用。尽管SNORD116缺失对PWS表型有明显影响，但对于14q32.2位点的SNORD113-SNORD114簇缺失在加贺美-尾形综合征（KOS14）中的相似效应以及在模晰综合征（TS14）中的上调作用仍需进一步探索。此外，除了它们可能参与神经发育障碍外，来自SNORD113-SNORD114簇的小核糖核酸还涉及到多种生物过程，包括多能性、发育、癌症和RNA修饰。在这里，我们总结了对这一系统的当前理解，以探索发育障碍与印记14q32.2位点的C/D盒小核糖核酸表达之间的可能联系。本文的分类包括：RNA在疾病与发展中 > RNA在疾病中，RNA在疾病与发展中 > RNA在发育中，RNA处理 > 小型RNA的处理。© 2023 Wiley Periodicals LLC出版的WIREs RNA由作者发表。

The 14q32.2 (DLK1-DIO3) and 15q11-q13 (SNURF-SNRPN) imprinted gene loci harbor the largest known small nucleolar RNA clusters expressed from the respective maternal and paternal alleles. Recent studies have demonstrated significant roles for the 15q11-q13 located SNORD115-SNORD116 C/D box snoRNAs in Prader-Willi syndrome (PWS), a neurodevelopmental disorder. Even though the effect of SNORD116 deletion is apparent in the PWS phenotype, similar effects of a SNORD113-SNORD114 cluster deletion from the 14q32.2 locus in Kagami-Ogata syndrome (KOS14) and upregulation in Temple syndrome (TS14) remain to be explored. Moreover, apart from their probable involvement in neurodevelopmental disorders, snoRNAs from the SNORD113-SNORD114 cluster have been implicated in multiple biological processes, including pluripotency, development, cancers, and RNA modifications. Here we summarize the current understanding of the system to explore the possibility of a link between developmental disorders and C/D box snoRNA expression from the imprinted 14q32.2 locus. This article is categorized under: RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development RNA Processing > Processing of Small RNAs.© 2023 The Authors. WIREs RNA published by Wiley Periodicals LLC.