Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/34533 http://dx.doi.org/10.1186/1755-8166-5-5 |
Resumo: | Background: the majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.Results: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. in addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement. |
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Colovati, Mileny E. S. [UNIFESP]Silva, Luciana R. J. da [UNIFESP]Takeno, Sylvia S. [UNIFESP]Mancini, Tatiane I. [UNIFESP]Dutra, Ana R. N. [UNIFESP]Guilherme, Roberta S. [UNIFESP]Mello, Claudia B. de [UNIFESP]Melaragno, Maria I. [UNIFESP]Perez, Ana B. A. [UNIFESP]Universidade Federal de São Paulo (UNIFESP)2016-01-24T14:17:48Z2016-01-24T14:17:48Z2012-01-19Molecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012.1755-8166http://repositorio.unifesp.br/handle/11600/34533http://dx.doi.org/10.1186/1755-8166-5-5WOS000309178000002.pdf10.1186/1755-8166-5-5WOS:000309178000002Background: the majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.Results: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. in addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Paulista Neuropsicol, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Paulista Neuropsicol, Dept Psicobiol, São Paulo, BrazilFAPESP: 09/54261-4Web of Science5engBiomed Central LtdMolecular CytogeneticsFBN1Marfan syndromeComplex Chromosomal RearrangementMarfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 geneinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALWOS000309178000002.pdfapplication/pdf8270401${dspace.ui.url}/bitstream/11600/34533/1/WOS000309178000002.pdf3f506c19bba3db27aa7e787508ceb22dMD51open accessTEXTWOS000309178000002.pdf.txtWOS000309178000002.pdf.txtExtracted texttext/plain19719${dspace.ui.url}/bitstream/11600/34533/2/WOS000309178000002.pdf.txt7f586ecd59219e25b36e976e16fcb273MD52open access11600/345332022-06-01 15:08:52.768open accessoai:repositorio.unifesp.br:11600/34533Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652022-06-01T18:08:52Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
title |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
spellingShingle |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene Colovati, Mileny E. S. [UNIFESP] FBN1 Marfan syndrome Complex Chromosomal Rearrangement |
title_short |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
title_full |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
title_fullStr |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
title_full_unstemmed |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
title_sort |
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene |
author |
Colovati, Mileny E. S. [UNIFESP] |
author_facet |
Colovati, Mileny E. S. [UNIFESP] Silva, Luciana R. J. da [UNIFESP] Takeno, Sylvia S. [UNIFESP] Mancini, Tatiane I. [UNIFESP] Dutra, Ana R. N. [UNIFESP] Guilherme, Roberta S. [UNIFESP] Mello, Claudia B. de [UNIFESP] Melaragno, Maria I. [UNIFESP] Perez, Ana B. A. [UNIFESP] |
author_role |
author |
author2 |
Silva, Luciana R. J. da [UNIFESP] Takeno, Sylvia S. [UNIFESP] Mancini, Tatiane I. [UNIFESP] Dutra, Ana R. N. [UNIFESP] Guilherme, Roberta S. [UNIFESP] Mello, Claudia B. de [UNIFESP] Melaragno, Maria I. [UNIFESP] Perez, Ana B. A. [UNIFESP] |
author2_role |
author author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Colovati, Mileny E. S. [UNIFESP] Silva, Luciana R. J. da [UNIFESP] Takeno, Sylvia S. [UNIFESP] Mancini, Tatiane I. [UNIFESP] Dutra, Ana R. N. [UNIFESP] Guilherme, Roberta S. [UNIFESP] Mello, Claudia B. de [UNIFESP] Melaragno, Maria I. [UNIFESP] Perez, Ana B. A. [UNIFESP] |
dc.subject.eng.fl_str_mv |
FBN1 Marfan syndrome Complex Chromosomal Rearrangement |
topic |
FBN1 Marfan syndrome Complex Chromosomal Rearrangement |
description |
Background: the majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.Results: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. in addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement. |
publishDate |
2012 |
dc.date.issued.fl_str_mv |
2012-01-19 |
dc.date.accessioned.fl_str_mv |
2016-01-24T14:17:48Z |
dc.date.available.fl_str_mv |
2016-01-24T14:17:48Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Molecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/34533 http://dx.doi.org/10.1186/1755-8166-5-5 |
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1755-8166 |
dc.identifier.file.none.fl_str_mv |
WOS000309178000002.pdf |
dc.identifier.doi.none.fl_str_mv |
10.1186/1755-8166-5-5 |
dc.identifier.wos.none.fl_str_mv |
WOS:000309178000002 |
identifier_str_mv |
Molecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012. 1755-8166 WOS000309178000002.pdf 10.1186/1755-8166-5-5 WOS:000309178000002 |
url |
http://repositorio.unifesp.br/handle/11600/34533 http://dx.doi.org/10.1186/1755-8166-5-5 |
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eng |
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Molecular Cytogenetics |
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5 |
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Biomed Central Ltd |
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Biomed Central Ltd |
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