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Functional characterization of LDL receptor gene variants found in patients with clinical diagnosis of familial hypercholesterolaemia

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dc.contributor.authorAlves, A.C.
dc.contributor.authorGraça, R.
dc.contributor.authorAbrantes, L.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorQueirós, R.
dc.contributor.authorMenezes, J.
dc.contributor.authorRomão, L.
dc.contributor.authorBourbon, M.
dc.date.accessioned2020-05-15T08:30:02Z
dc.date.available2020-05-15T08:30:02Z
dc.date.issued2019-05
dc.description.abstractAim: Familial Hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting increased cardiovascular risk due to lifelong exposure to high LDL levels. LDLR mutations are the cause of disease in about 90% of the cases, but proof of pathogenicity has only been obtained for about 10% of the variants. The lack of functional characterization of variants found in patients with a clinical diagnosis of FH makes it difficult to reach a definite FH diagnosis. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 142LDLR alterations were found in 861 index patients and their relatives up to date. Until now, 82 of these alterations have already been proved to be mutations causing disease or are established null alleles and 15 were classified by in vitro studies as non-pathogenic. The remaining 38 variants, 21 of unknown significance (VUS), found in 102 index cases have not been yet functionally characterized.pt_PT
dc.description.sponsorshipProject grant FCT_PTDC/SAU-GMG/101874/2008; UID/MULTI/04046/2013 centre grant from FCT, Portugal (to BioISI)pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6659
dc.language.isoengpt_PT
dc.relationNovel genes causing Familial Hypercholesterolaemia
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFunctional characterization of LDL receptor gene variants found in patients with clinical diagnosis of familial hypercholesterolaemiapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleNovel genes causing Familial Hypercholesterolaemia
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.citation.conferencePlaceMaastricht, The Netherlandspt_PT
oaire.citation.title87th EAS Congress, European Atherosclerosis Society / Dutch Atherosclerosis Society, 26-29 May 2019pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

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