A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

Detalhes bibliográficos
Autor(a) principal: Ferreira, Igor Ribeiro
Data de Publicação: 2020
Outros Autores: Costa, Régis Afonso, Gomes, Leonardo Henrique Ferreira, Cunha, Wilton Darleans dos Santos, Tyszler, Latife Salomão, Freitas, Silvia, Llerena Junior, Juan Clinton, Vasconcelos, Zilton Farias Meira de, Nicholls, Robert D., Guida, Letícia da Cunha
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/42598
Resumo: Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.
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spelling Ferreira, Igor RibeiroCosta, Régis AfonsoGomes, Leonardo Henrique FerreiraCunha, Wilton Darleans dos SantosTyszler, Latife SalomãoFreitas, SilviaLlerena Junior, Juan ClintonVasconcelos, Zilton Farias Meira deNicholls, Robert D.Guida, Letícia da Cunha2020-08-08T00:36:13Z2020-08-08T00:36:13Z2020FERREIRA, Igor Ribeiro et al. A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes. Scientific Reports, v. 10, n. 1, p. 1-9, 2020.2045-2322https://www.arca.fiocruz.br/handle/icict/4259810.1038/s41598-020-69750-0engNature ResearchA newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione. Rio de Janeiro, RJ, Brasil.Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.University of Pittsburgh. UPMC Children's Hospital of Pittsburgh, Department of Pediatrics. Division of Medical Genetics. Pittsburgh, PA, USA.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early diagnosis of both syndromes provides improved treatment and accurate genetic counseling. Whole blood (WB) is the most common DNA source of many methodologies to detect PWS and AS, however, the need of WB makes a massive screening difficult in newborns due to economic and technical limitations. The aim of this study was to adapt a Methylation-sensitive High-Resolution Melting (MS-HRM) approach from dried blood spot (DBS) samples, assessing the different DNA isolation techniques and diagnostic performance. Over a 1-year period, we collected 125 DBS cards, of which 45 had already been diagnosed by MS-HRM (20 PWS, 1 AS, and 24 healthy individuals). We tested three different DBS-DNA extraction techniques assessing the DNA concentration and quality, followed by MS-HRM and statistical comparison. Each DBS-DNA extraction method was capable of accuracy in detecting all PWS and AS individuals. However, the efficiency to detect healthy individuals varied according to methodology. In our experience, DNA extracted from DBS analyzed by the MS-HRM methodology provides an accurate approach for genetic screening of imprinting related disorders in newborns, offering several benefits compared to traditional whole blood methods.EpigeneticsEpigenetics analysisImprintinginfo: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/42598/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALs41598-020-69750-0.pdfs41598-020-69750-0.pdfapplication/pdf1519006https://www.arca.fiocruz.br/bitstream/icict/42598/2/s41598-020-69750-0.pdffdedd585e498a842c63af33a05eb1786MD52TEXTs41598-020-69750-0.pdf.txts41598-020-69750-0.pdf.txtExtracted texttext/plain40719https://www.arca.fiocruz.br/bitstream/icict/42598/3/s41598-020-69750-0.pdf.txt7f46fead43bea5f6e24976b1805eaf68MD53icict/425982021-04-08 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dc.title.pt_BR.fl_str_mv A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
title A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
spellingShingle A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Ferreira, Igor Ribeiro
Epigenetics
Epigenetics analysis
Imprinting
title_short A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
title_full A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
title_fullStr A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
title_full_unstemmed A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
title_sort A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
author Ferreira, Igor Ribeiro
author_facet Ferreira, Igor Ribeiro
Costa, Régis Afonso
Gomes, Leonardo Henrique Ferreira
Cunha, Wilton Darleans dos Santos
Tyszler, Latife Salomão
Freitas, Silvia
Llerena Junior, Juan Clinton
Vasconcelos, Zilton Farias Meira de
Nicholls, Robert D.
Guida, Letícia da Cunha
author_role author
author2 Costa, Régis Afonso
Gomes, Leonardo Henrique Ferreira
Cunha, Wilton Darleans dos Santos
Tyszler, Latife Salomão
Freitas, Silvia
Llerena Junior, Juan Clinton
Vasconcelos, Zilton Farias Meira de
Nicholls, Robert D.
Guida, Letícia da Cunha
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Ferreira, Igor Ribeiro
Costa, Régis Afonso
Gomes, Leonardo Henrique Ferreira
Cunha, Wilton Darleans dos Santos
Tyszler, Latife Salomão
Freitas, Silvia
Llerena Junior, Juan Clinton
Vasconcelos, Zilton Farias Meira de
Nicholls, Robert D.
Guida, Letícia da Cunha
dc.subject.en.pt_BR.fl_str_mv Epigenetics
Epigenetics analysis
Imprinting
topic Epigenetics
Epigenetics analysis
Imprinting
description Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher da Criança e do Adolescente Fernandes Figueira. Laboratório de Alta Complexidade. Rio de Janeiro, RJ, Brasil.
publishDate 2020
dc.date.accessioned.fl_str_mv 2020-08-08T00:36:13Z
dc.date.available.fl_str_mv 2020-08-08T00:36:13Z
dc.date.issued.fl_str_mv 2020
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 FERREIRA, Igor Ribeiro et al. A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes. Scientific Reports, v. 10, n. 1, p. 1-9, 2020.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/42598
dc.identifier.issn.pt_BR.fl_str_mv 2045-2322
dc.identifier.doi.none.fl_str_mv 10.1038/s41598-020-69750-0
identifier_str_mv FERREIRA, Igor Ribeiro et al. A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes. Scientific Reports, v. 10, n. 1, p. 1-9, 2020.
2045-2322
10.1038/s41598-020-69750-0
url https://www.arca.fiocruz.br/handle/icict/42598
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Nature Research
publisher.none.fl_str_mv Nature Research
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/42598/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/42598/2/s41598-020-69750-0.pdf
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