The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Arquivos de Endocrinologia e Metabolismo (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000600562 |
Resumo: | Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. |
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The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesisThyroid dysgenesiscongenital hypothyroidismcongenital heart diseaseNKX2.5 Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.Sociedade Brasileira de Endocrinologia e Metabologia2015-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000600562Archives of Endocrinology and Metabolism v.59 n.6 2015reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/2359-3997000000100info:eu-repo/semantics/openAccessCerqueira,Taise Lima de OliveiraRamos,YanneStrappa,GiorgiaMartin,Daniel SanJesus,MarianaGonzaga,JailcieleFerreira,PauloCosta,AnabelFernandes,VladimirAmorim,TatianaLadeia,Ana MariceRamos,Heltoneng2015-12-07T00:00:00Zoai:scielo:S2359-39972015000600562Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2015-12-07T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
title |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
spellingShingle |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis Cerqueira,Taise Lima de Oliveira Thyroid dysgenesis congenital hypothyroidism congenital heart disease NKX2.5 |
title_short |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
title_full |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
title_fullStr |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
title_full_unstemmed |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
title_sort |
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis |
author |
Cerqueira,Taise Lima de Oliveira |
author_facet |
Cerqueira,Taise Lima de Oliveira Ramos,Yanne Strappa,Giorgia Martin,Daniel San Jesus,Mariana Gonzaga,Jailciele Ferreira,Paulo Costa,Anabel Fernandes,Vladimir Amorim,Tatiana Ladeia,Ana Marice Ramos,Helton |
author_role |
author |
author2 |
Ramos,Yanne Strappa,Giorgia Martin,Daniel San Jesus,Mariana Gonzaga,Jailciele Ferreira,Paulo Costa,Anabel Fernandes,Vladimir Amorim,Tatiana Ladeia,Ana Marice Ramos,Helton |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Cerqueira,Taise Lima de Oliveira Ramos,Yanne Strappa,Giorgia Martin,Daniel San Jesus,Mariana Gonzaga,Jailciele Ferreira,Paulo Costa,Anabel Fernandes,Vladimir Amorim,Tatiana Ladeia,Ana Marice Ramos,Helton |
dc.subject.por.fl_str_mv |
Thyroid dysgenesis congenital hypothyroidism congenital heart disease NKX2.5 |
topic |
Thyroid dysgenesis congenital hypothyroidism congenital heart disease NKX2.5 |
description |
Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000600562 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000600562 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2359-3997000000100 |
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 |
Archives of Endocrinology and Metabolism v.59 n.6 2015 reponame:Arquivos de Endocrinologia e Metabolismo (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 de Endocrinologia e Metabolismo (Online) |
collection |
Arquivos de Endocrinologia e Metabolismo (Online) |
repository.name.fl_str_mv |
Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||aem.editorial.office@endocrino.org.br |
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1752122513854300160 |