Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation

Jaak Jaeken; Dirk J Lefeber; Gert Matthijs

doi:10.1038/s41431-019-0453-y

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation

Eur J Hum Genet. 2019 Nov;27(11):1757-1760. doi: 10.1038/s41431-019-0453-y. Epub 2019 Jun 23.

Authors

Jaak Jaeken¹, Dirk J Lefeber², Gert Matthijs³

Affiliations

¹ Department of Regeneration and Development, Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium. jaak.jaeken@kuleuven.be.
² Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
³ Department of Human Genetics, KU Leuven, Leuven, Belgium.

Abstract

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Congenital Disorders of Glycosylation / diagnosis*
Congenital Disorders of Glycosylation / genetics*
Genetic Predisposition to Disease / genetics*
Genotype
Humans
Mutation
Phosphoglucomutase / genetics*
Risk Assessment
Sensitivity and Specificity

Substances

PGM3 protein, human
Phosphoglucomutase