Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2014 |
| Outros Autores: | , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/9604 |
Resumo: | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. |
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Martins, Raisa da SilvaFonseca, Ana Carolina ProençaAcosta, Franklyn Enrique SamudioFolescu, Tania WrobelHiga, Laurinda Yoko ShinzatoSad, Izabela RochaChaves, Célia Regina Moutinho de MirandaCabello, Pedro HernanCabello, Giselda Maria Kalil2015-03-04T12:37:19Z2015-03-04T12:37:19Z2014MARTINS, Raisa da Silva. et al. Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report. BCM Research Notes, London, v. 7, n. 583, p. 1-4, Aug. 2014.1756-0500https://www.arca.fiocruz.br/handle/icict/9604engBioMed CentralSevere phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case reportinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação 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 Interdisciplinar de Pesquisas Médicas. Rio de Janeiro, RJ, Brasil. / Instituto Conmemorativo Gorgas de Estudios de la Salud. Laboratório de Parasitologia. Panama City, Panama.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Nutrição. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. / Universidade do Grande Rio. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Background:Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane regulator gene, including single nucleotide substitutions, insertions, and deletions. Unidentified mutations may still lie in introns or in regulatory regions, which are not routinely investigated, or in large genomic deletions, which are not revealed by conventional molecular analysis. The apparent homozygosity for a rare, cystic fibrosis conductance transmembrane regulator mutation screened by standard molecular analysis should be further investigated to confirm if the mutation is in fact homozygous. We describe a patient presenting with an apparent homozygousS4Xmutation. Case presentation:A 13-year-old female patient of African descent with clinical symptoms of classic cystic fibrosis and a positive sweat test (97 mEq/L, diagnosed at age 3 years) presented with pancreatic insufficiency and severe pulmonary symptoms (initial lung colonization withPseudomonas aeruginosaat age 4 years; forced vital capacity: 69%; forced expiratory volume: 51%; 2011). Furthermore, she developed severe acute lung disease and recurrent episodes of dehydration requiring hospitalization. The girl carried the CFTRmutationS4Xin apparent homozygosity. However, further analysis revealed a large deletion in the second allele that included the region of the mutation. The deletion that we describe includes nucleotides 120–142, which correspond to a loss of 23 nucleotides that abolishes the normal translation initiation codon. Conclusion:This study reiterates the view that large, cystic fibrosis conductance transmembrane regulator deletions are an important cause of severe cystic fibrosis and emphasizes the importance of including large deletions/duplications in cystic fibrosis conductance transmembrane regulator diagnostic tests.Cystic FibrosisCFTRApparent HomozygosisLarge DeletionSevere PhenotypeBrazilian PatientFibrose CísticaSupressãoFenótipoPacientesinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/9604/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALSevere phenotype in an apparent homozygosity.pdfSevere phenotype in an apparent homozygosity.pdfapplication/pdf414261https://www.arca.fiocruz.br/bitstream/icict/9604/2/Severe%20phenotype%20in%20an%20apparent%20homozygosity.pdfcb5dcbf8fb69f31f4e71b7463e771fe6MD52TEXTSevere phenotype in an apparent homozygosity.pdf.txtSevere phenotype in an apparent homozygosity.pdf.txtExtracted texttext/plain19753https://www.arca.fiocruz.br/bitstream/icict/9604/3/Severe%20phenotype%20in%20an%20apparent%20homozygosity.pdf.txt8a6d7e1ccfd49c13813b9660887da84dMD53icict/96042018-08-14 14:38:18.709oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-08-14T17:38:18Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| title |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| spellingShingle |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report Martins, Raisa da Silva Cystic Fibrosis CFTR Apparent Homozygosis Large Deletion Severe Phenotype Brazilian Patient Fibrose Cística Supressão Fenótipo Pacientes |
| title_short |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| title_full |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| title_fullStr |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| title_full_unstemmed |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| title_sort |
Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report |
| author |
Martins, Raisa da Silva |
| author_facet |
Martins, Raisa da Silva Fonseca, Ana Carolina Proença Acosta, Franklyn Enrique Samudio Folescu, Tania Wrobel Higa, Laurinda Yoko Shinzato Sad, Izabela Rocha Chaves, Célia Regina Moutinho de Miranda Cabello, Pedro Hernan Cabello, Giselda Maria Kalil |
| author_role |
author |
| author2 |
Fonseca, Ana Carolina Proença Acosta, Franklyn Enrique Samudio Folescu, Tania Wrobel Higa, Laurinda Yoko Shinzato Sad, Izabela Rocha Chaves, Célia Regina Moutinho de Miranda Cabello, Pedro Hernan Cabello, Giselda Maria Kalil |
| author2_role |
author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Martins, Raisa da Silva Fonseca, Ana Carolina Proença Acosta, Franklyn Enrique Samudio Folescu, Tania Wrobel Higa, Laurinda Yoko Shinzato Sad, Izabela Rocha Chaves, Célia Regina Moutinho de Miranda Cabello, Pedro Hernan Cabello, Giselda Maria Kalil |
| dc.subject.en.pt_BR.fl_str_mv |
Cystic Fibrosis CFTR Apparent Homozygosis Large Deletion Severe Phenotype Brazilian Patient |
| topic |
Cystic Fibrosis CFTR Apparent Homozygosis Large Deletion Severe Phenotype Brazilian Patient Fibrose Cística Supressão Fenótipo Pacientes |
| dc.subject.decs.pt_BR.fl_str_mv |
Fibrose Cística Supressão Fenótipo Pacientes |
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Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. |
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2014 |
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2014 |
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2015-03-04T12:37:19Z |
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2015-03-04T12:37:19Z |
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MARTINS, Raisa da Silva. et al. Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report. BCM Research Notes, London, v. 7, n. 583, p. 1-4, Aug. 2014. |
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1756-0500 |
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MARTINS, Raisa da Silva. et al. Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report. BCM Research Notes, London, v. 7, n. 583, p. 1-4, Aug. 2014. 1756-0500 |
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