Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/S0004-27302010000500009 http://hdl.handle.net/11449/226035 |
Resumo: | Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Copyright© ABE&M todos os direitos reservados. |
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Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisáriaMolecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiencyAnálise mutacional do DNADeficiência hormonal hipofisáriaDisplasia septo-ópticaDNA mutational analysisPituitary hormonal deficiencySepto-optic dysplasiaObjective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Copyright© ABE&M todos os direitos reservados.Universidade Estadual Paulista (Unesp) Faculdade de Medicina Departamento de Clínica Médica Disciplina de Endocrinologia e Metabologia, Botucatu, São Paulo, SPDivisão de Endocrinologia Metabologia e Medicina Molecular Northwestern University, Chicago, ILUniversidade Estadual Paulista (Unesp) Faculdade de Medicina Departamento de Clínica Médica Disciplina de Endocrinologia e Metabologia, Botucatu, São Paulo, SPUniversidade Estadual Paulista (UNESP)Northwestern UniversityCruz, Juliana B. [UNESP]Nunes, Vania S. [UNESP]Clara, Sueli A. [UNESP]Perone, Denise [UNESP]Kopp, PeterNogueira, Célia R. [UNESP]2022-04-28T21:24:27Z2022-04-28T21:24:27Z2010-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article482-487http://dx.doi.org/10.1590/S0004-27302010000500009Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 5, p. 482-487, 2010.1677-94870004-2730http://hdl.handle.net/11449/22603510.1590/S0004-273020100005000092-s2.0-77956809012Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporArquivos Brasileiros de Endocrinologia e Metabologiainfo:eu-repo/semantics/openAccess2024-08-14T17:36:43Zoai:repositorio.unesp.br:11449/226035Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-14T17:36:43Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency |
title |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
spellingShingle |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária Cruz, Juliana B. [UNESP] Análise mutacional do DNA Deficiência hormonal hipofisária Displasia septo-óptica DNA mutational analysis Pituitary hormonal deficiency Septo-optic dysplasia |
title_short |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
title_full |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
title_fullStr |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
title_full_unstemmed |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
title_sort |
Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária |
author |
Cruz, Juliana B. [UNESP] |
author_facet |
Cruz, Juliana B. [UNESP] Nunes, Vania S. [UNESP] Clara, Sueli A. [UNESP] Perone, Denise [UNESP] Kopp, Peter Nogueira, Célia R. [UNESP] |
author_role |
author |
author2 |
Nunes, Vania S. [UNESP] Clara, Sueli A. [UNESP] Perone, Denise [UNESP] Kopp, Peter Nogueira, Célia R. [UNESP] |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) Northwestern University |
dc.contributor.author.fl_str_mv |
Cruz, Juliana B. [UNESP] Nunes, Vania S. [UNESP] Clara, Sueli A. [UNESP] Perone, Denise [UNESP] Kopp, Peter Nogueira, Célia R. [UNESP] |
dc.subject.por.fl_str_mv |
Análise mutacional do DNA Deficiência hormonal hipofisária Displasia septo-óptica DNA mutational analysis Pituitary hormonal deficiency Septo-optic dysplasia |
topic |
Análise mutacional do DNA Deficiência hormonal hipofisária Displasia septo-óptica DNA mutational analysis Pituitary hormonal deficiency Septo-optic dysplasia |
description |
Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Copyright© ABE&M todos os direitos reservados. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-01-01 2022-04-28T21:24:27Z 2022-04-28T21:24:27Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/S0004-27302010000500009 Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 5, p. 482-487, 2010. 1677-9487 0004-2730 http://hdl.handle.net/11449/226035 10.1590/S0004-27302010000500009 2-s2.0-77956809012 |
url |
http://dx.doi.org/10.1590/S0004-27302010000500009 http://hdl.handle.net/11449/226035 |
identifier_str_mv |
Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 5, p. 482-487, 2010. 1677-9487 0004-2730 10.1590/S0004-27302010000500009 2-s2.0-77956809012 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Arquivos Brasileiros de Endocrinologia e Metabologia |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
482-487 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128201809985536 |