TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Detalhes bibliográficos
Autor(a) principal: Rosset,Clévia
Data de Publicação: 2017
Outros Autores: Netto,Cristina Brinckmann Oliveira, Ashton-Prolla,Patricia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100069
Resumo: Abstract 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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spelling TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewTuberous sclerosis complexTSC mutationsgenotype-phenotype correlationsTSC1TSC2Abstract 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.Sociedade Brasileira de Genética2017-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100069Genetics and Molecular Biology v.40 n.1 2017reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2015-0321info:eu-repo/semantics/openAccessRosset,CléviaNetto,Cristina Brinckmann OliveiraAshton-Prolla,Patriciaeng2017-04-25T00:00:00Zoai:scielo:S1415-47572017000100069Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2017-04-25T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
title TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
spellingShingle TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
Rosset,Clévia
Tuberous sclerosis complex
TSC mutations
genotype-phenotype correlations
TSC1
TSC2
title_short TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
title_full TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
title_fullStr TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
title_full_unstemmed TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
title_sort TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
author Rosset,Clévia
author_facet Rosset,Clévia
Netto,Cristina Brinckmann Oliveira
Ashton-Prolla,Patricia
author_role author
author2 Netto,Cristina Brinckmann Oliveira
Ashton-Prolla,Patricia
author2_role author
author
dc.contributor.author.fl_str_mv Rosset,Clévia
Netto,Cristina Brinckmann Oliveira
Ashton-Prolla,Patricia
dc.subject.por.fl_str_mv Tuberous sclerosis complex
TSC mutations
genotype-phenotype correlations
TSC1
TSC2
topic Tuberous sclerosis complex
TSC mutations
genotype-phenotype correlations
TSC1
TSC2
description Abstract 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.none.fl_str_mv 2017-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100069
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100069
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2015-0321
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.40 n.1 2017
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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