Genotype-phenotype correlation in Brazillian Rett syndrome patients

Detalhes bibliográficos
Autor(a) principal: Lima,Fernanda T. de
Data de Publicação: 2009
Outros Autores: Brunoni,Decio, Schwartzman,José Salomão, Pozzi,Maria Cristina, Kok,Fernando, Juliano,Yara, Pereira,Lygia da Veiga
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001
Resumo: BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.
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spelling Genotype-phenotype correlation in Brazillian Rett syndrome patientsRett syndromegenotype-phenotype correlationBACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.Academia Brasileira de Neurologia - ABNEURO2009-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001Arquivos de Neuro-Psiquiatria v.67 n.3a 2009reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2009000400001info:eu-repo/semantics/openAccessLima,Fernanda T. deBrunoni,DecioSchwartzman,José SalomãoPozzi,Maria CristinaKok,FernandoJuliano,YaraPereira,Lygia da Veigaeng2009-08-21T00:00:00Zoai:scielo:S0004-282X2009000400001Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2009-08-21T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Genotype-phenotype correlation in Brazillian Rett syndrome patients
title Genotype-phenotype correlation in Brazillian Rett syndrome patients
spellingShingle Genotype-phenotype correlation in Brazillian Rett syndrome patients
Lima,Fernanda T. de
Rett syndrome
genotype-phenotype correlation
title_short Genotype-phenotype correlation in Brazillian Rett syndrome patients
title_full Genotype-phenotype correlation in Brazillian Rett syndrome patients
title_fullStr Genotype-phenotype correlation in Brazillian Rett syndrome patients
title_full_unstemmed Genotype-phenotype correlation in Brazillian Rett syndrome patients
title_sort Genotype-phenotype correlation in Brazillian Rett syndrome patients
author Lima,Fernanda T. de
author_facet Lima,Fernanda T. de
Brunoni,Decio
Schwartzman,José Salomão
Pozzi,Maria Cristina
Kok,Fernando
Juliano,Yara
Pereira,Lygia da Veiga
author_role author
author2 Brunoni,Decio
Schwartzman,José Salomão
Pozzi,Maria Cristina
Kok,Fernando
Juliano,Yara
Pereira,Lygia da Veiga
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Lima,Fernanda T. de
Brunoni,Decio
Schwartzman,José Salomão
Pozzi,Maria Cristina
Kok,Fernando
Juliano,Yara
Pereira,Lygia da Veiga
dc.subject.por.fl_str_mv Rett syndrome
genotype-phenotype correlation
topic Rett syndrome
genotype-phenotype correlation
description BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.
publishDate 2009
dc.date.none.fl_str_mv 2009-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2009000400001
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 Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.67 n.3a 2009
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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