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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

2021Journal article Open access
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dc.contributor.authorQuelhas, D
dc.contributor.authorMartins, E
dc.contributor.authorAzevedo, L
dc.contributor.authorBandeira, A
dc.contributor.authorDiogo, L
dc.contributor.authorGarcia, P
dc.contributor.authorSequeira, S
dc.contributor.authorFerreira, AC
dc.contributor.authorTeles, EL
dc.contributor.authorRodrigues, E
dc.contributor.authorFortuna, AM
dc.contributor.authorMendonça, C
dc.contributor.authorFernandes, HC
dc.contributor.authorMedeira, A
dc.contributor.authorGaspar, A
dc.contributor.authorJaneiro, P
dc.contributor.authorOliveira, A
dc.contributor.authorLaranjeira, F
dc.contributor.authorRibeiro, I
dc.contributor.authorSouche, E
dc.contributor.authorRace, V
dc.contributor.authorKeldermans, L
dc.contributor.authorMatthijs, G
dc.contributor.authorJaeken, J
dc.date.accessioned2022-11-24T16:12:43Z
dc.date.available2022-11-24T16:12:43Z
dc.date.issued2021
dc.description.abstractObjective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively. Results: Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1. Conclusions: Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pediatr . 2021 Apr;231:148-156.pt_PT
dc.identifier.doi10.1016/j.jpeds.2020.12.026pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4292
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectCDGpt_PT
dc.subjectPMM2 genotypept_PT
dc.subjectCongenital disorder/glycosylationpt_PT
dc.subjectPhenotypept_PT
dc.subjectTransferrinpt_PT
dc.subjectHDE MTBpt_PT
dc.titleCongenital Disorders of Glycosylation in Portugal—Two Decades of Experiencept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage156pt_PT
oaire.citation.startPage148pt_PT
oaire.citation.titleThe Journal of Pediatricspt_PT
oaire.citation.volume231pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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