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Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal

2023-04-17Journal article Open access
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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorMiranda, Beatriz
dc.contributor.authorMoldovan, Oona
dc.contributor.authorEspírito Santo, Raquel
dc.contributor.authorGouveia Silva, Raquel
dc.contributor.authorSoares Cardoso, Sandra
dc.contributor.authorDiogo, Luísa
dc.contributor.authorSeidi, Mónica
dc.contributor.authorSequeira, Sílvia
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2024-02-12T11:29:56Z
dc.date.available2024-02-12T11:29:56Z
dc.date.issued2023-04-17
dc.description.abstractDyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia. Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1, APOA1, LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3. All rare variants (MAF<5%) found in these genes were confirmed by Sanger sequencing. This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G>A) and the other is a possible compound heterozygous for APOB variants c.2604+1G>A and c.4651C>T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A>T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFront Genet. 2023 Apr 17:13:1088040. doi: 10.3389/fgene.2022.1088040. eCollection 2022pt_PT
dc.identifier.doi10.3389/fgene.2022.1088040pt_PT
dc.identifier.issn1664-8021
dc.identifier.urihttp://hdl.handle.net/10400.18/9079
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.relation.publisherversionhttps://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1088040/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectRare Dyslipidaemiaspt_PT
dc.subjectLDL Cholesterolpt_PT
dc.subjectHDL Cholesterolpt_PT
dc.subjectHypobetalipoproteinemiapt_PT
dc.subjectHypoalphalipoproteinemiapt_PT
dc.subjectDislipidémiaspt_PT
dc.subjectColesterolpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.subjectPortugalpt_PT
dc.titleRare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugalpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage1088040pt_PT
oaire.citation.titleFrontiers in Geneticspt_PT
oaire.citation.volume13pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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