Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Herestraat 49, BE 3000, Leuven, Belgium.
Department of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2. Besides, it discusses novel phenotypes of known CDG (DHDDS-CDG, ALG9-CDG, EXT2-CDG, PIGA-CDG, PIGN-CDG), the elucidation of putative glycosyltransferase disorders as O-mannosylglycan synthesis disorders (TMEM5-CDG, ISPD-CDG, FKTN-CDG, FKRP-CDG), a novel CDG mechanism, advances in diagnosis, pathogenesis, treatment and finally an updated list of the 104 known CDG.
先天性糖基化障碍（CDG）是糖基化障碍中的一类。后者包括与低聚糖基化相关的缺陷，也包括高聚糖基化的缺陷。低聚糖基化的遗传性疾病可分为原发性先天性糖基化障碍（CDG）和引起继发性低聚糖基化的遗传性疾病。本综述涵盖了过去 3 年（2014-2016 年）人类 CDG 的重点，概述了 CDG 的现状。它扩展了 23 种新的 CDG，即 SLC39A8、CAD、NANS、PGM3、SSR4、POGLUT1、NUS1、GANAB、PIGY、PIGW、PIGC、PIGG、PGAP1、PGAP3、VPS13B、CCDC115、TMEM199、ATP6AP1、ATP6V1A、ATP6V1E1、TRAPPC11、XYLT1 和 XYLT2 的缺陷。此外，还讨论了已知 CDG（DHDDS-CDG、ALG9-CDG、EXT2-CDG、PIGA-CDG、PIGN-CDG）的新表型，推测糖基转移酶疾病的阐明作为 O-甘露糖聚糖合成障碍（TMEM5-CDG、ISPD-CDG、FKTN-CDG、FKRP-CDG），一种新的 CDG 机制，在诊断、发病机制、治疗方面的进展，最后是 104 种已知 CDG 的更新列表。
