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Mutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1

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dc.creatorFernandez-L A.spa
dc.creatorSanz-Rodriguez F.spa
dc.creatorZarrabeitia R.spa
dc.creatorPerez-Molino A.spa
dc.creatorMorales C.spa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorRamirez J.R.spa
dc.creatorCoto E.spa
dc.creatorLenato G.M.spa
dc.creatorBernabeu C.spa
dc.creatorBotella L.M.spa
dc.date.accessioned2020-05-26T00:10:24Z
dc.date.available2020-05-26T00:10:24Z
dc.date.created2006spa
dc.description.abstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has identified mutations in 17 unrelated families. Ten different mutations in ALK1 and six in ENG genes were found. Six unrelated families had a mutation in ENG gene, four representing new mutations, p.Y258fs, pV323fs, p.F279fs (c.834_837del CTTC), and p.F279fsdupC. Eleven unrelated families harboured mutations in ALK1; ten were new mutations identified as p.H328P, p.R145fs, p.G68C, p.A377T, p.H297R, p.M376T, p.C36Y, p.H328P, p.T82del and p.R47P. Overall, ALK1 mutations (HHT2) were predominant over ENG mutations (HHT1), in agreement with data reported for other Mediterranean countries (France, Italy), but at variance with Northern Europe or North America. Endoglin expression in HHT1 or HHT2 activated monocytes and blood outgrowth endothelial cells (BOECs) from older patients was well below the theoretical 50% level expected from the HHT1 haploinsufficiency model, suggesting that the pathogenic endoglin haploinsufficiency leading to the HHT phenotype is age-dependent. Interestingly, ALK1 protein levels of HHT BOECs in some missense ALK1 mutants were similar to controls. In vitro expression of these ALK1 constructs suggests that, in addition to the haploinsufficiency model, certain ALK1 mutants may inhibit the function of the wild type allele. © 2006 Wiley-Liss, Inc.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/humu.9413
dc.identifier.issn10981004
dc.identifier.issn10597794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24226
dc.language.isoengspa
dc.relation.citationIssueNo. 3
dc.relation.citationTitleHuman Mutation
dc.relation.citationVolumeVol. 27
dc.relation.ispartofHuman Mutation, ISSN:10981004, 10597794, Vol.27, No.3 (2006)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33646109750&doi=10.1002%2fhumu.9413&partnerID=40&md5=793511a1eea45a70eef1a7bf89afbcafspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordActivin receptor 2spa
dc.subject.keywordpreschooleng
dc.subject.keywordtype iieng
dc.subject.keywordcdeng
dc.subject.keywordcell surfaceeng
dc.subject.keywordhereditary hemorrhagiceng
dc.subject.keywordhumaneng
dc.subject.keywordhumaneng
dc.subject.keywordmissenseeng
dc.subject.keywordAcvrl1 proteineng
dc.subject.keywordCell surface receptorspa
dc.subject.keywordEng proteineng
dc.subject.keywordLeukocyte antigenspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAgespa
dc.subject.keywordAgedspa
dc.subject.keywordArticlespa
dc.subject.keywordChildspa
dc.subject.keywordGene expression regulationspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGeneticsspa
dc.subject.keywordHumanspa
dc.subject.keywordMiddle agedspa
dc.subject.keywordMissense mutationspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordPreschool childspa
dc.subject.keywordRendu osler weber diseasespa
dc.subject.keywordSpainspa
dc.subject.keywordActivin receptorseng
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAge factorsspa
dc.subject.keywordAgedspa
dc.subject.keywordAged, 80 and overspa
dc.subject.keywordAntigenseng
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordGene expression regulationspa
dc.subject.keywordHumansspa
dc.subject.keywordMiddle agedspa
dc.subject.keywordMutationeng
dc.subject.keywordReceptorseng
dc.subject.keywordSpainspa
dc.subject.keywordTelangiectasiaeng
dc.subject.keywordVariation (genetics)spa
dc.subject.keywordAcvrl1spa
dc.subject.keywordAlk1spa
dc.subject.keywordEndoglinspa
dc.subject.keywordEndothelial cellsspa
dc.subject.keywordEngspa
dc.subject.keywordHhtspa
dc.subject.keywordTgf-?spa
dc.titleMutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1spa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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