Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

Detalhes bibliográficos
Autor(a) principal: Alves, Ana Catarina
Data de Publicação: 2018
Outros Autores: Benito-Vicente, Asier, Medeiros, Ana Margarida, Reeves, Kaajal, Martin, Cesar, Bourbon, Mafalda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/5622
Resumo: APOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
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spelling Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemiaAPOB VariantsFamilial HypercholesterolemiaFunctional StudiesDoenças Cardio e Cérebro-vascularesAPOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.Highlights: The spectrum of functional alterations in APOB outside the fragments routinely screened is growing; We characterized two rare novel variants in APOB, p.(Thr3826Met) is pathogenic and p.(Pro994Leu) is neutral; The study of all 29 exons of APOB should be performed in routine diagnosis, now possible by NGS, since it is expected that a further 5–10% of clinical FH patients can have FH due to a novel APOB mutation; Due to low penetrance of APOB variants and high rate of common variants inAPOB, all novel variants need to be functionally characterized to prove their pathogenicity.Funding was obtained from the Portuguese Science and Technology Foundation [PTDC/SAU-GMG/101874/2008], the Spanish Ministry of Economy and Competitiveness (grant N BFU 2012-36241), and the Basque Government (Grupos Consolidados IT849- 13). ABV was supported by a grant PIF (2014e2015) Gobierno Vasco.ElsevierRepositório Científico do Instituto Nacional de SaúdeAlves, Ana CatarinaBenito-Vicente, AsierMedeiros, Ana MargaridaReeves, KaajalMartin, CesarBourbon, Mafalda2018-10-18T10:47:48Z2018-102018-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5622engAtherosclerosis. 2018 Oct;277:448-456. doi: 10.1016/j.atherosclerosis.2018.06.819.0021-915010.1016/j.atherosclerosis.2018.06.819info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:59Zoai:repositorio.insa.pt:10400.18/5622Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:21.830706Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
title Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
spellingShingle Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
Alves, Ana Catarina
APOB Variants
Familial Hypercholesterolemia
Functional Studies
Doenças Cardio e Cérebro-vasculares
title_short Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
title_full Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
title_fullStr Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
title_full_unstemmed Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
title_sort Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
author Alves, Ana Catarina
author_facet Alves, Ana Catarina
Benito-Vicente, Asier
Medeiros, Ana Margarida
Reeves, Kaajal
Martin, Cesar
Bourbon, Mafalda
author_role author
author2 Benito-Vicente, Asier
Medeiros, Ana Margarida
Reeves, Kaajal
Martin, Cesar
Bourbon, Mafalda
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Alves, Ana Catarina
Benito-Vicente, Asier
Medeiros, Ana Margarida
Reeves, Kaajal
Martin, Cesar
Bourbon, Mafalda
dc.subject.por.fl_str_mv APOB Variants
Familial Hypercholesterolemia
Functional Studies
Doenças Cardio e Cérebro-vasculares
topic APOB Variants
Familial Hypercholesterolemia
Functional Studies
Doenças Cardio e Cérebro-vasculares
description APOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
publishDate 2018
dc.date.none.fl_str_mv 2018-10-18T10:47:48Z
2018-10
2018-10-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/5622
url http://hdl.handle.net/10400.18/5622
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Atherosclerosis. 2018 Oct;277:448-456. doi: 10.1016/j.atherosclerosis.2018.06.819.
0021-9150
10.1016/j.atherosclerosis.2018.06.819
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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