| Author | Molfetta, Greice Andreotti | |
| Author | Zanette, Dalila Lucíola | |
| Author | Santos, J. E | |
| Author | Silva Junior, Wilson Araújo da | |
| Access date | 2018-03-27T12:59:07Z | |
| Available date | 2018-03-27T12:59:07Z | |
| Document date | 2017 | |
| Citation | 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. | pt_BR |
| ISSN | 1676-5680 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/25514 | |
| Description | Zanette, Dalila Lucíola. “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”. | pt_BR |
| Language | eng | pt_BR |
| Publisher | Fundação Norte-Rio-Grandense de Pesquisa e Cultura | pt_BR |
| Rights | open access | pt_BR |
| Subject in Portuguese | Hipercolesterolemia familiar | pt_BR |
| Subject in Portuguese | Gene LDLR | pt_BR |
| Subject in Portuguese | Sequenciamento de DNA | pt_BR |
| Title | Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.4238/gmr16039226 | |
| Abstract | Familial 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. | pt_BR |
| Affilliation | 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, Brasil | pt_BR |
| Affilliation | Universidade 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, | pt_BR |
| Affilliation | Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Clínica Médica. Ribeirão Preto, SP, Brasil | pt_BR |
| Affilliation | 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, Brasil | pt_BR |
| Subject | Familial hypercholesterolemia | pt_BR |
| Subject | LDLR gene | pt_BR |
| Subject | DNA sequencing | pt_BR |
