Repository logo
 
Publication

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia

2017-04Journal article Open access
Simple item page
dc.contributor.authorBourbon, M.
dc.contributor.authorAlves, A.C.
dc.contributor.authorSijbrands, E.J.
dc.date.accessioned2017-11-03T16:49:21Z
dc.date.available2017-11-03T16:49:21Z
dc.date.issued2017-04
dc.description.abstractPURPOSE OF REVIEW: To present up to date evidence on the pathogenicity of low-density lipoprotein receptor (LDLR) variants and to propose a strategy that is suitable for implementation in the clinical work-up of familial hypercholesterolaemia. RECENT FINDINGS: More than 1800 variants have been described in the LDLR gene of patients with a clinical diagnosis of familial hypercholesterolaemia; however, less than 15% have functional evidence of pathogenicity. SUMMARY: The spectrum of variants in the LDLR identified in patients with clinical familial hypercholesterolaemia is increasing as novel variants are still being reported. However, over 50% of all LDLR variants need further evidence before they can be confirmed as mutations causing disease. Even with applying the recent American College of Medical Genetics variant classification, a large number of variants are still considered variants of unknown significance. Before obtaining an undisputable confirmation of the effect on the expression and activity of the LDLR, reporting these variants as part of a clinical diagnosis to the patient holds the risk that it might need to be withdrawn in a later stage. An investment should be made to develop functional assays to characterize LDLR variants of unknown significance for a better patient diagnosis and to prevent confusion in the physician's office.pt_PT
dc.description.sponsorshipThe MB research has been supported by grants from the Portuguese Cardiology Society, Science and Technology Foundation and BioISI, centre grant UID/MULTI/ 04046/2013, from FCT/MCTES/PIDDAC, Portugal.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCurr Opin Lipidol. 2017 Apr;28(2):120-129. doi: 10.1097/MOL.0000000000000404.pt_PT
dc.identifier.doi10.1097/MOL.0000000000000404pt_PT
dc.identifier.issn0957-9672
dc.identifier.urihttp://hdl.handle.net/10400.18/4820
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwer Health, Incpt_PT
dc.relation.publisherversionhttp://pt.wkhealth.com/pt/re/lwwgateway/landingpage.htm;jsessionid=YsNR191djLGgjyZJDQtn2Tnjhb8DJlSkk7Gpwqbn2b1v232xY081!-875454884!181195628!8091!-1?issn=0957-9672&volume=28&issue=2&spage=120pt_PT
dc.subjectFunctional Studiespt_PT
dc.subjectLDL Receptor Activitypt_PT
dc.subjectLDLR genept_PT
dc.subjectPatient Diagnosispt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleLow-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.citation.endPage129pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage120pt_PT
oaire.citation.titleCurrent Opinion in Lipidologypt_PT
oaire.citation.volume28pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Low-density lipoprotein receptor mutational analysis.pdf
Size:
197.4 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DPSPDNT - Artigos em revistas internacionais