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Genotype-Phenotype Correlations in PMM2-CDG

Faculty of Medicine, KU Leuven, B3000 Leuven, Belgium
Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, B3000 Leuven, Belgium
Department of Gastroenterology-Hepatology, University Hospitals Leuven, B3000 Leuven, Belgium
Department of Clinical Genomics, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA
Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário do Porto, 4099-001 Porto, Portugal
Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, University of Porto, 4050-313 Porto, Portugal
Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto, 4099-001 Porto, Portugal
Author to whom correspondence should be addressed.
Academic Editor: Alejandro Garanto
Genes 2021, 12(11), 1658;
Received: 3 October 2021 / Revised: 17 October 2021 / Accepted: 18 October 2021 / Published: 21 October 2021
(This article belongs to the Special Issue Genetic Research in Metabolic Diseases)
PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and dichotomous variables reflecting the patients’ phenotype. The phenotypic effects of patients’ genotype were studied using non-parametric and Chi-Square tests. Seventeen different pathogenic variants have been studied. Variants with zero enzyme activity had no significant impact on the Nijmegen score. Pathogenic variants involving the stabilization/folding domain have a significantly lower total NPCRS (p = 0.017): presence of the p.Cys241Ser mutation had a significantly lower subscore 1,3 and NPCRS (p = 0.04) and thus result in a less severe phenotype. On the other hand, variants involving the dimerization domain, p.Pro113Leu and p.Phe119Leu, resulted in a significantly higher NPCRS score (p = 0.002), which indicates a worse clinical course. These concepts give a better insight in the phenotypic prognosis of PMM2-CDG, according to their molecular base. View Full-Text
Keywords: PMM2-CDG; NPCRS; congenital disorders of glycosylation; genotype; mutation PMM2-CDG; NPCRS; congenital disorders of glycosylation; genotype; mutation
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MDPI and ACS Style

Vaes, L.; Rymen, D.; Cassiman, D.; Ligezka, A.; Vanhoutvin, N.; Quelhas, D.; Morava, E.; Witters, P. Genotype-Phenotype Correlations in PMM2-CDG. Genes 2021, 12, 1658.

AMA Style

Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P. Genotype-Phenotype Correlations in PMM2-CDG. Genes. 2021; 12(11):1658.

Chicago/Turabian Style

Vaes, Laurien, Daisy Rymen, David Cassiman, Anna Ligezka, Nele Vanhoutvin, Dulce Quelhas, Eva Morava, and Peter Witters. 2021. "Genotype-Phenotype Correlations in PMM2-CDG" Genes 12, no. 11: 1658.

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