Congenital Disorders of Glycosylation (CDG) are an expanding and complex group of rare genetic disorders caused by defects in the glycosylation of proteins and lipids. The genetic spectrum of CDG is extremely broad with mutations in over 140 genes leading to a wide variety of symptoms ranging from mild to severe and life-threatening. There has been an expansion in the genetic complexity of CDG in recent years. More specifically several examples of alternate phenotypes in recessive forms of CDG and new types of CDG following an autosomal dominant inheritance pattern have been identified. In addition, novel genetic mechanisms such as expansion repeats have been reported and several already known disorders have been classified as CDG as their pathophysiology was better elucidated. Furthermore, we consider the future and outlook of CDG genetics, with a focus on exploration of the non-coding genome using whole genome sequencing, RNA-seq and multi-omics technology.

先天性糖基化障碍 (CDG) 是一组不断扩大且复杂的罕见遗传疾病，由蛋白质和脂质的糖基化缺陷引起。CDG 的遗传谱极其广泛，140 多个基因发生突变，导致从轻度到重度乃至危及生命的各种症状。近年来，CDG 的遗传复杂性有所增加。更具体地说，已经确定了隐性形式的 CDG 和遵循常染色体显性遗传模式的新型 CDG 中的替代表型的几个例子。此外，已经报道了新的遗传机制，例如扩增重复，并且一些已知的疾病已被归类为 CDG，因为它们的病理生理学得到了更好的阐明。此外，我们考虑 CDG 遗传学的未来和前景，