Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

Detalhes bibliográficos
Autor(a) principal: Martins, Raisa da Silva
Data de Publicação: 2019
Outros Autores: Campos Junior, Mario, Moreira, Aline dos Santos, Zembrzuski, Verônica Marques, Fonseca, Ana Carolina Proença da, Abreu, Gabriella de Medeiros, Cabello, Pedro Hernan, Cabello, Giselda Maria Kalil de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/35320
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Graduação em Biologia Molecular e Celular. Rio de Janeiro, RJ, Brasil.
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spelling Martins, Raisa da SilvaCampos Junior, MarioMoreira, Aline dos SantosZembrzuski, Verônica MarquesFonseca, Ana Carolina Proença daAbreu, Gabriella de MedeirosCabello, Pedro HernanCabello, Giselda Maria Kalil de2019-09-03T16:53:05Z2019-09-03T16:53:05Z2019MARTINS, Raisa da Silva et al. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population. Molecular Genetics and Genomic Medicine, v. 7, n. 7, p. 1-7, 2019.2324-9269https://www.arca.fiocruz.br/handle/icict/3532010.1002/mgg3.645engWiley Open AccessFibrose císticaMutaçãoCFTRCNVCystic FibrosisMLPAMutationIdentification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic populationinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Graduação em Biologia Molecular e Celular. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genômica Funcional e Bioinformática. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Grande Rio. Laboratório de Genética. Rio de Janeiro, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Graduação em Biologia Molecular e Celular. Rio de Janeiro, RJ, Brasil.Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. The most common types of mutations in this gene are single nucleotide substitutions or small deletions and insertions. However, large rearrangements, such as large duplications or deletions, are also a possible cause of CF; these variations are rarely tested in routine screenings, and much of them remain unidentified in some populations, especially those with high ethnic heterogeneity. Methods: The present study utilized the Multiplex Ligation‐dependent Probe Amplification (MLPA) technique for the detection of duplications and deletions in 165 CF patients from the Rio de Janeiro State (Brazil), which after extensive mutational screening, still exhibited one or two unidentified CF alleles. Results: Five patients with alterations in MLPA signals were detected. After validation, we identified three copy number variations, one large duplication (CFTRdup2‐3) and two large deletions (CFTRdel25‐26 and CFTRdel25‐27‐CTTNBP2). Two detected deletions were not validated. They were false positives caused by a small deletion of 18 base pairs (232del18) and a point mutation (S168L) in the probe binding site. Conclusion: Our results highlight the importance of screening for large rearrangements in CF cases with no or only one CFTR mutation defined.info: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/35320/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALRaisaMartins_PedroCabello_etal_IOC_2019.pdfRaisaMartins_PedroCabello_etal_IOC_2019.pdfapplication/pdf355926https://www.arca.fiocruz.br/bitstream/icict/35320/2/RaisaMartins_PedroCabello_etal_IOC_2019.pdf9f2b030d1c33d1ad3048c8edf1b86926MD52TEXTRaisaMartins_PedroCabello_etal_IOC_2019.pdf.txtRaisaMartins_PedroCabello_etal_IOC_2019.pdf.txtExtracted texttext/plain33690https://www.arca.fiocruz.br/bitstream/icict/35320/3/RaisaMartins_PedroCabello_etal_IOC_2019.pdf.txtba3ada37a780245e5242863e5ab3c2a1MD53icict/353202019-09-04 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dc.title.pt_BR.fl_str_mv Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
title Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
spellingShingle Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
Martins, Raisa da Silva
Fibrose cística
Mutação
CFTR
CNV
Cystic Fibrosis
MLPA
Mutation
title_short Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
title_full Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
title_fullStr Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
title_full_unstemmed Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
title_sort Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
author Martins, Raisa da Silva
author_facet Martins, Raisa da Silva
Campos Junior, Mario
Moreira, Aline dos Santos
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Cabello, Pedro Hernan
Cabello, Giselda Maria Kalil de
author_role author
author2 Campos Junior, Mario
Moreira, Aline dos Santos
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Cabello, Pedro Hernan
Cabello, Giselda Maria Kalil de
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Martins, Raisa da Silva
Campos Junior, Mario
Moreira, Aline dos Santos
Zembrzuski, Verônica Marques
Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Cabello, Pedro Hernan
Cabello, Giselda Maria Kalil de
dc.subject.other.pt_BR.fl_str_mv Fibrose cística
Mutação
topic Fibrose cística
Mutação
CFTR
CNV
Cystic Fibrosis
MLPA
Mutation
dc.subject.en.pt_BR.fl_str_mv CFTR
CNV
Cystic Fibrosis
MLPA
Mutation
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Graduação em Biologia Molecular e Celular. Rio de Janeiro, RJ, Brasil.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-09-03T16:53:05Z
dc.date.available.fl_str_mv 2019-09-03T16:53:05Z
dc.date.issued.fl_str_mv 2019
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 MARTINS, Raisa da Silva et al. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population. Molecular Genetics and Genomic Medicine, v. 7, n. 7, p. 1-7, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/35320
dc.identifier.issn.pt_BR.fl_str_mv 2324-9269
dc.identifier.doi.none.fl_str_mv 10.1002/mgg3.645
identifier_str_mv MARTINS, Raisa da Silva et al. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population. Molecular Genetics and Genomic Medicine, v. 7, n. 7, p. 1-7, 2019.
2324-9269
10.1002/mgg3.645
url https://www.arca.fiocruz.br/handle/icict/35320
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 Wiley Open Access
publisher.none.fl_str_mv Wiley Open Access
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/35320/1/license.txt
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