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What is new in CDG?

Jaak Jaeken¹, Romain Péanne²

¹Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Herestraat 49, BE 3000, Leuven, Belgium. jaak.jaeken@kuleuven.be.

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Summary

This review summarizes recent advances in human congenital disorders of glycosylation (CDG), detailing 23 novel CDG types and new insights into known CDG phenotypes and mechanisms.

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Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Congenital disorders of glycosylation (CDG) encompass defects in hypoglycosylation and hyperglycosylation.
Genetic hypoglycosylation disorders are categorized as primary CDG or secondary causes.
This review focuses on human CDG, updating the field from 2014-2016.

Purpose of the Study:

To provide a comprehensive overview of human CDG highlights from 2014-2016.
To detail newly identified CDG genes and phenotypes.
To discuss advances in CDG diagnosis, pathogenesis, and treatment.

Main Methods:

Literature review of human CDG research published between 2014 and 2016.
Analysis of genetic defects associated with novel and known CDG.
Synthesis of information on CDG mechanisms, diagnosis, and therapeutic strategies.

Main Results:

Identification and characterization of 23 novel CDG, including defects in genes like SLC39A8, CAD, and PGM3.
Elucidation of novel phenotypes for known CDG, such as DHDDS-CDG and ALG9-CDG.
Advances in understanding O-mannosylglycan synthesis disorders and novel CDG mechanisms.
An updated compilation of 104 known CDG.

Conclusions:

Significant progress has been made in identifying novel CDG genes and understanding their associated phenotypes.
Continued research is crucial for advancing diagnosis, pathogenesis insights, and treatment strategies for CDG.
The field of CDG is rapidly expanding, with ongoing discoveries reshaping our understanding of these complex genetic disorders.