Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1

Detalhes bibliográficos
Autor(a) principal: Wen,Zhang
Data de Publicação: 2012
Outros Autores: Liao,Quan, Hu,Ya, Zhao,Yupei
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000300006
Resumo: OBJECTIVE: This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. CONCLUSION: We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.
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spelling Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1Multiple endocrine neoplasia type 1MEN1 genegermline mutationmeninOBJECTIVE: This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. CONCLUSION: We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.Sociedade Brasileira de Endocrinologia e Metabologia2012-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000300006Arquivos Brasileiros de Endocrinologia & Metabologia v.56 n.3 2012reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302012000300006info:eu-repo/semantics/openAccessWen,ZhangLiao,QuanHu,YaZhao,Yupeieng2012-05-31T00:00:00Zoai:scielo:S0004-27302012000300006Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2012-05-31T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
title Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
spellingShingle Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
Wen,Zhang
Multiple endocrine neoplasia type 1
MEN1 gene
germline mutation
menin
title_short Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
title_full Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
title_fullStr Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
title_full_unstemmed Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
title_sort Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1
author Wen,Zhang
author_facet Wen,Zhang
Liao,Quan
Hu,Ya
Zhao,Yupei
author_role author
author2 Liao,Quan
Hu,Ya
Zhao,Yupei
author2_role author
author
author
dc.contributor.author.fl_str_mv Wen,Zhang
Liao,Quan
Hu,Ya
Zhao,Yupei
dc.subject.por.fl_str_mv Multiple endocrine neoplasia type 1
MEN1 gene
germline mutation
menin
topic Multiple endocrine neoplasia type 1
MEN1 gene
germline mutation
menin
description OBJECTIVE: This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. CONCLUSION: We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.
publishDate 2012
dc.date.none.fl_str_mv 2012-04-01
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=S0004-27302012000300006
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000300006
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27302012000300006
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 Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia v.56 n.3 2012
reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
instname_str Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron_str SBEM
institution SBEM
reponame_str Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
collection Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
repository.mail.fl_str_mv ||abem-editoria@endocrino.org.br
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