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Genotype-Phenotype Correlations in PMM2-CDG

2021-10Journal article Open access
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dc.contributor.authorVaes, Laurien
dc.contributor.authorRymen, Daisy
dc.contributor.authorCassiman, David
dc.contributor.authorLigezka, Anna
dc.contributor.authorVanhoutvin, Nele
dc.contributor.authorQuelhas, D
dc.contributor.authorMorava, Eva
dc.contributor.authorWitters, Peter
dc.date.accessioned2023-10-24T09:38:57Z
dc.date.available2023-10-24T09:38:57Z
dc.date.issued2021-10
dc.description.abstractPMM2-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.pt_PT
dc.description.sponsorshipE.M. was funded by the grant titled Frontiers in Congenital Disorders of Glycosylation(1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS)and the National Center for Advancing Translational Sciences (NCATS), at the National Institute of Health. P.W. was funded by the Fonds Wetenschappelijk Onderzoek-Vlaanderen (Fundamenteel Klinisch Mandaat 18B4322N)pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationVaes L, Rymen D, Cassiman D, et al. Genotype-Phenotype Correlations in PMM2-CDG. Genes (Basel). 2021;12(11):1658. doi:10.3390/genes12111658pt_PT
dc.identifier.doi10.3390/genes12111658pt_PT
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.16/2841
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2073-4425/12/11/1658pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNPCRSpt_PT
dc.subjectPMM2-CDGpt_PT
dc.subjectcongenital disorders of glycosylationpt_PT
dc.subjectgenotypept_PT
dc.subjectmutationpt_PT
dc.titleGenotype-Phenotype Correlations in PMM2-CDGpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue11pt_PT
oaire.citation.startPage1658pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume12pt_PT
person.familyNameQuelhas
person.givenNameDulce
person.identifier.ciencia-id921C-8052-6FC5
person.identifier.orcid0000-0001-9989-9236
person.identifier.scopus-author-id6507796178
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa7117e6e-c216-451e-9f9a-b2cd8dab81e4
relation.isAuthorOfPublication.latestForDiscoverya7117e6e-c216-451e-9f9a-b2cd8dab81e4

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