Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil

Detalhes bibliográficos
Autor(a) principal: Molfetta, Greice Andreotti
Data de Publicação: 2017
Outros Autores: Zanette, Dalila Lucíola, Santos, J. E, Silva Junior, Wilson Araújo da
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/25514
Resumo: Zanette, Dalila Lucíola. “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
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spelling Molfetta, Greice AndreottiZanette, Dalila LucíolaSantos, J. ESilva Junior, Wilson Araújo da2018-03-27T12:59:07Z2018-03-27T12:59:07Z2017MOLFETTA, G. A. et al. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. Genetics and Molecular Research, v. 16, n. 3, p. gmr16039226, 2017.1676-5680https://www.arca.fiocruz.br/handle/icict/2551410.4238/gmr16039226Zanette, Dalila Lucíola. “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / Universidade de São Paulo. Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto. Centro de Medicina Genômica. Ribeirão Preto, SP, Brasil / Universidade de São Paulo. Instituto Nacional de Ciência e Tecnologia em Células-Tronco e Terapia Celular. Fundação Hemocentro de Ribeirão Preto. Ribeirão Preto, SP, BrasilUniversidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / Universidade de São Paulo. Instituto Nacional de Ciência e Tecnologia em Células-Tronco e Terapia Celular. Fundação Hemocentro de Ribeirão Preto. Ribeirão Preto, SP,Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Clínica Médica. Ribeirão Preto, SP, BrasilUniversidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / Universidade de São Paulo. Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto. Centro de Medicina Genômica. Ribeirão Preto, SP, Brasil / Universidade de São Paulo. Instituto Nacional de Ciência e Tecnologia em Células-Tronco e Terapia Celular. Fundação Hemocentro de Ribeirão Preto. Ribeirão Preto, SP, BrasilFamilial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol concentrations. LDLR is a cell-surface glycoprotein that controls the level of blood plasma cholesterol and triglyceride by LDLR-mediated endocytosis. Here we sequenced the entire LDLR gene-coding region to screen for mutations in 32 patients diagnosed with FH, and we have found 20 mutations including synonymous, missense, and intronic mutations. Six of them were characterized as pathogenic mutations (D178Y, C184Y, S326C, C681X, IVS7+10G>C, and IVS11-10G>A). We have also found one intronic mutation not described so far (IVS11-63C>A). Our study corroborates the broad spectrum of mutations distributed along the entire LDLR gene, and we suggest that the genes APOB and PCSK9 should also be screened for mutations when considering the diagnosis of FH. It is already known that different types of mutations are directly associated with the phenotype heterogeneity presented by patients. Considering that Brazilian population is highly admixed, it is important to determine the geographic spectrum of LDLR mutations to provide information on the prognosis and treatment of each FH patient.engFundação Norte-Rio-Grandense de Pesquisa e CulturaHipercolesterolemia familiarGene LDLRSequenciamento de DNAFamilial hypercholesterolemiaLDLR geneDNA sequencingMutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/25514/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALMolfetta GA Mutational screening in the LDLR gene....pdfMolfetta GA Mutational screening in the LDLR 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dc.title.pt_BR.fl_str_mv Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
title Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
spellingShingle Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
Molfetta, Greice Andreotti
Hipercolesterolemia familiar
Gene LDLR
Sequenciamento de DNA
Familial hypercholesterolemia
LDLR gene
DNA sequencing
title_short Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
title_full Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
title_fullStr Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
title_full_unstemmed Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
title_sort Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
author Molfetta, Greice Andreotti
author_facet Molfetta, Greice Andreotti
Zanette, Dalila Lucíola
Santos, J. E
Silva Junior, Wilson Araújo da
author_role author
author2 Zanette, Dalila Lucíola
Santos, J. E
Silva Junior, Wilson Araújo da
author2_role author
author
author
dc.contributor.author.fl_str_mv Molfetta, Greice Andreotti
Zanette, Dalila Lucíola
Santos, J. E
Silva Junior, Wilson Araújo da
dc.subject.other.pt_BR.fl_str_mv Hipercolesterolemia familiar
Gene LDLR
Sequenciamento de DNA
topic Hipercolesterolemia familiar
Gene LDLR
Sequenciamento de DNA
Familial hypercholesterolemia
LDLR gene
DNA sequencing
dc.subject.en.pt_BR.fl_str_mv Familial hypercholesterolemia
LDLR gene
DNA sequencing
description Zanette, Dalila Lucíola. “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
publishDate 2017
dc.date.issued.fl_str_mv 2017
dc.date.accessioned.fl_str_mv 2018-03-27T12:59:07Z
dc.date.available.fl_str_mv 2018-03-27T12:59:07Z
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.citation.fl_str_mv MOLFETTA, G. A. et al. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. Genetics and Molecular Research, v. 16, n. 3, p. gmr16039226, 2017.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/25514
dc.identifier.issn.pt_BR.fl_str_mv 1676-5680
dc.identifier.doi.none.fl_str_mv 10.4238/gmr16039226
identifier_str_mv MOLFETTA, G. A. et al. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. Genetics and Molecular Research, v. 16, n. 3, p. gmr16039226, 2017.
1676-5680
10.4238/gmr16039226
url https://www.arca.fiocruz.br/handle/icict/25514
dc.language.iso.fl_str_mv eng
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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Fundação Norte-Rio-Grandense de Pesquisa e Cultura
publisher.none.fl_str_mv Fundação Norte-Rio-Grandense de Pesquisa e Cultura
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
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