Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/212744 |
Resumo: | In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplication encompassing the band region 4p16.3–p13, and a 14.7 Mb deletion located between the bands 5p15.33 and p15.1. The patient’s clinical findings overlap with previously reported cases of chromosome 4p duplication syndrome and CdCS. The patient’s symptoms are notably similar to those of CdCS patients as she presented with a weak, high-pitched voice and showed a similar pathogenicity observed in the brain MRI. These contiguous gene syndromes present with distinct clinical manifestations. However, the phenotypic and cytogenetic variability in affected individuals, such as the low frequency and the large genomic regions that can be altered, make it challenging to identify candidate genes that contribute to the pathogenesis of these syndromes. Therefore, systems biology and CMA techniques were used to investigate the extent of chromosome rearrangement on critical regions in our patient’s phenotype. We identified the candidate genes PPARGC1A, CTBP1, TRIO, TERT, and CCT5 that are associated with the neuropsychomotor delay, microcephaly, and neurological alterations found in our patient. Through investigating pathways that associate with essential nodes in the protein interaction network, we discovered proteins involved in cellular differentiation and proliferation, as well as proteins involved in the formation and disposition of the cytoskeleton. The combination of our cytogenomic and bioinformatic analysis provided these possible explanations for the unique clinical phenotype, which has not yet been described in scientific literature. |
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Corrêa, ThiagoPoswar, Fabiano de OliveiraFeltes, Bruno CésarRiegel, Mariluce2020-08-08T03:46:07Z20201664-8021http://hdl.handle.net/10183/212744001116369In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplication encompassing the band region 4p16.3–p13, and a 14.7 Mb deletion located between the bands 5p15.33 and p15.1. The patient’s clinical findings overlap with previously reported cases of chromosome 4p duplication syndrome and CdCS. The patient’s symptoms are notably similar to those of CdCS patients as she presented with a weak, high-pitched voice and showed a similar pathogenicity observed in the brain MRI. These contiguous gene syndromes present with distinct clinical manifestations. However, the phenotypic and cytogenetic variability in affected individuals, such as the low frequency and the large genomic regions that can be altered, make it challenging to identify candidate genes that contribute to the pathogenesis of these syndromes. Therefore, systems biology and CMA techniques were used to investigate the extent of chromosome rearrangement on critical regions in our patient’s phenotype. We identified the candidate genes PPARGC1A, CTBP1, TRIO, TERT, and CCT5 that are associated with the neuropsychomotor delay, microcephaly, and neurological alterations found in our patient. Through investigating pathways that associate with essential nodes in the protein interaction network, we discovered proteins involved in cellular differentiation and proliferation, as well as proteins involved in the formation and disposition of the cytoskeleton. The combination of our cytogenomic and bioinformatic analysis provided these possible explanations for the unique clinical phenotype, which has not yet been described in scientific literature.application/pdfengFrontiers in Genetics. Lausanne. Vol. 11 (Jun. 2020), 561, p. 1-8Duplicação cromossômicaTrissomiaMonossomiaSíndrome do miado do gatoFenótipoInformática médicaCérebroImagem por ressonância magnéticaCri-du-chat4p16.3PPARGC1ACTBP1TRIOTERTCCT5Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2Estrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001116369.pdf.txt001116369.pdf.txtExtracted Texttext/plain39084http://www.lume.ufrgs.br/bitstream/10183/212744/2/001116369.pdf.txt0bfa34200339dfc14eeddb267b5742b7MD52ORIGINAL001116369.pdfTexto completo (inglês)application/pdf2448439http://www.lume.ufrgs.br/bitstream/10183/212744/1/001116369.pdfd8c6d3f2b268abb0cb5d215eef584524MD5110183/2127442023-01-21 06:10:12.424857oai:www.lume.ufrgs.br:10183/212744Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-01-21T08:10:12Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
title |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
spellingShingle |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 Corrêa, Thiago Duplicação cromossômica Trissomia Monossomia Síndrome do miado do gato Fenótipo Informática médica Cérebro Imagem por ressonância magnética Cri-du-chat 4p16.3 PPARGC1A CTBP1 TRIO TERT CCT5 |
title_short |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
title_full |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
title_fullStr |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
title_full_unstemmed |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
title_sort |
Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2 |
author |
Corrêa, Thiago |
author_facet |
Corrêa, Thiago Poswar, Fabiano de Oliveira Feltes, Bruno César Riegel, Mariluce |
author_role |
author |
author2 |
Poswar, Fabiano de Oliveira Feltes, Bruno César Riegel, Mariluce |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Corrêa, Thiago Poswar, Fabiano de Oliveira Feltes, Bruno César Riegel, Mariluce |
dc.subject.por.fl_str_mv |
Duplicação cromossômica Trissomia Monossomia Síndrome do miado do gato Fenótipo Informática médica Cérebro Imagem por ressonância magnética |
topic |
Duplicação cromossômica Trissomia Monossomia Síndrome do miado do gato Fenótipo Informática médica Cérebro Imagem por ressonância magnética Cri-du-chat 4p16.3 PPARGC1A CTBP1 TRIO TERT CCT5 |
dc.subject.eng.fl_str_mv |
Cri-du-chat 4p16.3 PPARGC1A CTBP1 TRIO TERT CCT5 |
description |
In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplication encompassing the band region 4p16.3–p13, and a 14.7 Mb deletion located between the bands 5p15.33 and p15.1. The patient’s clinical findings overlap with previously reported cases of chromosome 4p duplication syndrome and CdCS. The patient’s symptoms are notably similar to those of CdCS patients as she presented with a weak, high-pitched voice and showed a similar pathogenicity observed in the brain MRI. These contiguous gene syndromes present with distinct clinical manifestations. However, the phenotypic and cytogenetic variability in affected individuals, such as the low frequency and the large genomic regions that can be altered, make it challenging to identify candidate genes that contribute to the pathogenesis of these syndromes. Therefore, systems biology and CMA techniques were used to investigate the extent of chromosome rearrangement on critical regions in our patient’s phenotype. We identified the candidate genes PPARGC1A, CTBP1, TRIO, TERT, and CCT5 that are associated with the neuropsychomotor delay, microcephaly, and neurological alterations found in our patient. Through investigating pathways that associate with essential nodes in the protein interaction network, we discovered proteins involved in cellular differentiation and proliferation, as well as proteins involved in the formation and disposition of the cytoskeleton. The combination of our cytogenomic and bioinformatic analysis provided these possible explanations for the unique clinical phenotype, which has not yet been described in scientific literature. |
publishDate |
2020 |
dc.date.accessioned.fl_str_mv |
2020-08-08T03:46:07Z |
dc.date.issued.fl_str_mv |
2020 |
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Estrangeiro info:eu-repo/semantics/article |
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http://hdl.handle.net/10183/212744 |
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1664-8021 |
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001116369 |
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http://hdl.handle.net/10183/212744 |
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eng |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Frontiers in Genetics. Lausanne. Vol. 11 (Jun. 2020), 561, p. 1-8 |
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