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Journal of Inherited Metabolic Disease

, Volume 40, Issue 4, pp 569–586 | Cite as

What is new in CDG?

  • Jaak Jaeken
  • Romain Péanne
SSIEM 2016

Abstract

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.

Abbreviations

Apo C-III

Apolipoprotein C-III

AT

Antithrombin

CDG

Congenital disorder(s) of glycosylation

CZE

Capillary zone electrophoresis

ER

Endoplasmic reticulum

ERGIC

ER-Golgi intermediate compartment

GPI

Glycosylphosphatidylinositol

IEF

Isoelectrofocusing

Tf

Transferrin

Notes

Acknowledgments

This work was supported by grants from the Research Foundation (FWO, http://www.fwo.be/Default.aspx) Flanders (G.0553.08 and G.0505.12) and from the European Union’s Horizon 2020 research and innovation program under the ERA-NET Cofund action N° 643578. It was supported by FWO Belgium, under the frame of E-Rare-3, the ERA-Net for Research on Rare Diseases (EURO-CDG-2 project). Romain Péanne is a postdoctoral researcher of the FWO.

Author contribution

Both authors have been involved in the conception, the design, and the drafting of the article.

Compliance with ethics standards

This article does not contain any studies with human or animal subjects performed by any of the authors.

Conflict of interest

J. Jaeken and R. Péanne declare that they have no conflict of interest.

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© SSIEM 2017

Authors and Affiliations

  1. 1.Center for Metabolic DiseasesUniversity Hospital Gasthuisberg, KU LeuvenLeuvenBelgium
  2. 2.Department of Human GeneticsUniversity Hospital Gasthuisberg, KU LeuvenLeuvenBelgium

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