Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/11600/42703 http://dx.doi.org/10.1590/S0004-27302008000800012 |
Resumo: | The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME. (Arq Bras Endocrinol Metab 2008; 52/8:1277-1281) |
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Coeli, Fernanda BorchersCaldas Ferraz, Lucio FabioLemos-Marini, Sofia H. V. dePinto Rigatto, Sumara ZuanaziSantoro Belangero, Vera MariaMello, Maricilda Palandi de [UNIFESP]Universidade Estadual de Campinas (UNICAMP)Universidade Federal de São Paulo (UNIFESP)2018-06-15T14:00:10Z2018-06-15T14:00:10Z2008-11-01Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 52, n. 8, p. 1277-1281, 2008.0004-2730http://repositorio.unifesp.br/11600/42703http://dx.doi.org/10.1590/S0004-27302008000800012S0004-27302008000800012.pdfS0004-2730200800080001210.1590/S0004-27302008000800012WOS:000262313500012The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME. (Arq Bras Endocrinol Metab 2008; 52/8:1277-1281)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Univ Estadual Campinas, CBMEG, Lab Genet Mol Humana, BR-13083875 Campinas, SP, BrazilUniv Estadual Campinas, Ctr Invest Pediat, Fac Ciencias Med, Dept Pediat, BR-13083875 Campinas, SP, BrazilWeb of Science1277-1281engSbem-soc Brasil Endocrinologia & MetabologiaArquivos Brasileiros De Endocrinologia E MetabologiaApparent mineralocorticoid excessHSD11B2 geneHypertensionDeficiency of 11 beta-hydroxysteroid dehydrogenase type 2MutationsApparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 GeneSíndrome de excesso aparente de mineralocorticóide em um menino brasileiro causada pela mutação p.R186C em homozigose no gene HSD11B2info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/427032021-10-05 22:02:40.806metadata only accessoai:repositorio.unifesp.br:11600/42703Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:21:23.783191Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
dc.title.alternative.pt.fl_str_mv |
Síndrome de excesso aparente de mineralocorticóide em um menino brasileiro causada pela mutação p.R186C em homozigose no gene HSD11B2 |
title |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
spellingShingle |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene Coeli, Fernanda Borchers Apparent mineralocorticoid excess HSD11B2 gene Hypertension Deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 Mutations |
title_short |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
title_full |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
title_fullStr |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
title_full_unstemmed |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
title_sort |
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene |
author |
Coeli, Fernanda Borchers |
author_facet |
Coeli, Fernanda Borchers Caldas Ferraz, Lucio Fabio Lemos-Marini, Sofia H. V. de Pinto Rigatto, Sumara Zuanazi Santoro Belangero, Vera Maria Mello, Maricilda Palandi de [UNIFESP] |
author_role |
author |
author2 |
Caldas Ferraz, Lucio Fabio Lemos-Marini, Sofia H. V. de Pinto Rigatto, Sumara Zuanazi Santoro Belangero, Vera Maria Mello, Maricilda Palandi de [UNIFESP] |
author2_role |
author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Estadual de Campinas (UNICAMP) Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Coeli, Fernanda Borchers Caldas Ferraz, Lucio Fabio Lemos-Marini, Sofia H. V. de Pinto Rigatto, Sumara Zuanazi Santoro Belangero, Vera Maria Mello, Maricilda Palandi de [UNIFESP] |
dc.subject.eng.fl_str_mv |
Apparent mineralocorticoid excess HSD11B2 gene Hypertension Deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 Mutations |
topic |
Apparent mineralocorticoid excess HSD11B2 gene Hypertension Deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 Mutations |
description |
The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME. (Arq Bras Endocrinol Metab 2008; 52/8:1277-1281) |
publishDate |
2008 |
dc.date.issued.fl_str_mv |
2008-11-01 |
dc.date.accessioned.fl_str_mv |
2018-06-15T14:00:10Z |
dc.date.available.fl_str_mv |
2018-06-15T14:00:10Z |
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.citation.fl_str_mv |
Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 52, n. 8, p. 1277-1281, 2008. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/11600/42703 http://dx.doi.org/10.1590/S0004-27302008000800012 |
dc.identifier.issn.none.fl_str_mv |
0004-2730 |
dc.identifier.file.none.fl_str_mv |
S0004-27302008000800012.pdf |
dc.identifier.scielo.none.fl_str_mv |
S0004-27302008000800012 |
dc.identifier.doi.none.fl_str_mv |
10.1590/S0004-27302008000800012 |
dc.identifier.wos.none.fl_str_mv |
WOS:000262313500012 |
identifier_str_mv |
Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 52, n. 8, p. 1277-1281, 2008. 0004-2730 S0004-27302008000800012.pdf S0004-27302008000800012 10.1590/S0004-27302008000800012 WOS:000262313500012 |
url |
http://repositorio.unifesp.br/11600/42703 http://dx.doi.org/10.1590/S0004-27302008000800012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.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 |
1277-1281 |
dc.publisher.none.fl_str_mv |
Sbem-soc Brasil Endocrinologia & Metabologia |
publisher.none.fl_str_mv |
Sbem-soc Brasil Endocrinologia & Metabologia |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
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1783460280556060672 |