TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/164319 |
Resumo: | Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available. Extensive studies of the TSC1 and TSC2 genes in patients with TSC worldwide have revealed a wide spectrum of mutations. Consequently, the discovery of the underlying genetic defects in TSC has furthered our understanding of this complex genetic disorder, and genotype-phenotype correlations are becoming possible, although there are still only a few clearly established correlations. This review focuses on the main symptoms and genetic alterations described in TSC patients from 13 countries in three continents, as well as on genotype-phenotype correlations established to date. The determination of genotype-phenotype correlations may contribute to the establishment of successful personalized treatment for TSC. |
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Rosset, CléviaNetto, Cristina Brinckmann OliveiraProlla, Patrícia Ashton2017-07-25T02:29:47Z20171415-4757http://hdl.handle.net/10183/164319001022405Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available. Extensive studies of the TSC1 and TSC2 genes in patients with TSC worldwide have revealed a wide spectrum of mutations. Consequently, the discovery of the underlying genetic defects in TSC has furthered our understanding of this complex genetic disorder, and genotype-phenotype correlations are becoming possible, although there are still only a few clearly established correlations. This review focuses on the main symptoms and genetic alterations described in TSC patients from 13 countries in three continents, as well as on genotype-phenotype correlations established to date. The determination of genotype-phenotype correlations may contribute to the establishment of successful personalized treatment for TSC.application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 40, no. 1, (Mar. 2017), p. 69-79Esclerose tuberosaTuberous sclerosis complexTSC mutationsGenotype-phenotype correlationsTSC1TSC2TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a reviewinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL001022405.pdf001022405.pdfTexto completo (inglês)application/pdf1371927http://www.lume.ufrgs.br/bitstream/10183/164319/1/001022405.pdfbffb5f04541a0f47015ad26bbf591241MD51TEXT001022405.pdf.txt001022405.pdf.txtExtracted Texttext/plain48443http://www.lume.ufrgs.br/bitstream/10183/164319/2/001022405.pdf.txta74861a2b9c995e2bc9c83b1b1ec8013MD52THUMBNAIL001022405.pdf.jpg001022405.pdf.jpgGenerated Thumbnailimage/jpeg1809http://www.lume.ufrgs.br/bitstream/10183/164319/3/001022405.pdf.jpga56ea9b6ab3e0fbfc213fae78b552de5MD5310183/1643192018-10-15 09:30:00.758oai:www.lume.ufrgs.br:10183/164319Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2018-10-15T12:30Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
title |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
spellingShingle |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review Rosset, Clévia Esclerose tuberosa Tuberous sclerosis complex TSC mutations Genotype-phenotype correlations TSC1 TSC2 |
title_short |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
title_full |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
title_fullStr |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
title_full_unstemmed |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
title_sort |
TSC1 and TSC2 gene mutations and their implications for tratment in tuberous sclerosis complex : a review |
author |
Rosset, Clévia |
author_facet |
Rosset, Clévia Netto, Cristina Brinckmann Oliveira Prolla, Patrícia Ashton |
author_role |
author |
author2 |
Netto, Cristina Brinckmann Oliveira Prolla, Patrícia Ashton |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Rosset, Clévia Netto, Cristina Brinckmann Oliveira Prolla, Patrícia Ashton |
dc.subject.por.fl_str_mv |
Esclerose tuberosa |
topic |
Esclerose tuberosa Tuberous sclerosis complex TSC mutations Genotype-phenotype correlations TSC1 TSC2 |
dc.subject.eng.fl_str_mv |
Tuberous sclerosis complex TSC mutations Genotype-phenotype correlations TSC1 TSC2 |
description |
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available. Extensive studies of the TSC1 and TSC2 genes in patients with TSC worldwide have revealed a wide spectrum of mutations. Consequently, the discovery of the underlying genetic defects in TSC has furthered our understanding of this complex genetic disorder, and genotype-phenotype correlations are becoming possible, although there are still only a few clearly established correlations. This review focuses on the main symptoms and genetic alterations described in TSC patients from 13 countries in three continents, as well as on genotype-phenotype correlations established to date. The determination of genotype-phenotype correlations may contribute to the establishment of successful personalized treatment for TSC. |
publishDate |
2017 |
dc.date.accessioned.fl_str_mv |
2017-07-25T02:29:47Z |
dc.date.issued.fl_str_mv |
2017 |
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001022405 |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 40, no. 1, (Mar. 2017), p. 69-79 |
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