先天性心脏病是新生儿最常见的出生缺陷，发病率高达0.4%～1%🍶。已知心脏发育过程中重要转录因子MESP1的多个突变以及表观遗传修饰复合体PRC1（Polycomb repressive complex 1）和黏连蛋白复合体（cohesin）中多个组分的突变与先天性心脏病的发生密切相关^[1-3]🧆，而这些组分在心脏发育中的具体作用机制还不清楚。

2022年11月21日👀✏️，https://doi.org/10.1016/j.devcel.2022.10.009

参考文献：

[1]Werner P, Latney B, Deardorff M A, et al. MESP1 Mutations in Patients with Congenital Heart Defects[J]. Human Mutation, 2016, 37(3): 308-314.

[2]Turnpenny P D, Wright M J, Sloman M, et al. Missense mutations of the Pro65 residue of PCGF2 cause a recognizable syndrome associated with craniofacial, neurological, cardiovascular, and skeletal features[J]. The American Journal of Human Genetics, 2018, 103(5): 786-793.

[3]Piché J, Van Vliet P P, Pucéat M, et al. The expanding phenotypes of cohesinopathies: one ring to rule them all![J]. Cell Cycle, 2019, 18(21): 2828-2848.

[4]Liu S, Aldinger K A, Cheng C V, et al. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain[J]. Mol Cell, 2021, 81(22): 4757.