Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis
Autor(a) principal: | |
---|---|
Data de Publicação: | 2010 |
Outros Autores: | , , , |
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=S0004-27302010000600008 |
Resumo: | OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid. |
id |
SBEM-2_aea72068008b3ca4039c481816d231a8 |
---|---|
oai_identifier_str |
oai:scielo:S0004-27302010000600008 |
network_acronym_str |
SBEM-2 |
network_name_str |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
repository_id_str |
|
spelling |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesisCongenital hypothyroidismthyroid dysgenesisPAX8gene mutationOBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.Sociedade Brasileira de Endocrinologia e Metabologia2010-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000600008Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.6 2010reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302010000600008info:eu-repo/semantics/openAccessMahjoubi,FrouzandehMohammadi,Mona MalekMontazeri,MaryamAminii,MasoudHashemipour,Mahineng2010-09-08T00:00:00Zoai:scielo:S0004-27302010000600008Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2010-09-08T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
title |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
spellingShingle |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis Mahjoubi,Frouzandeh Congenital hypothyroidism thyroid dysgenesis PAX8 gene mutation |
title_short |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
title_full |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
title_fullStr |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
title_full_unstemmed |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
title_sort |
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis |
author |
Mahjoubi,Frouzandeh |
author_facet |
Mahjoubi,Frouzandeh Mohammadi,Mona Malek Montazeri,Maryam Aminii,Masoud Hashemipour,Mahin |
author_role |
author |
author2 |
Mohammadi,Mona Malek Montazeri,Maryam Aminii,Masoud Hashemipour,Mahin |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Mahjoubi,Frouzandeh Mohammadi,Mona Malek Montazeri,Maryam Aminii,Masoud Hashemipour,Mahin |
dc.subject.por.fl_str_mv |
Congenital hypothyroidism thyroid dysgenesis PAX8 gene mutation |
topic |
Congenital hypothyroidism thyroid dysgenesis PAX8 gene mutation |
description |
OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-08-01 |
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=S0004-27302010000600008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000600008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-27302010000600008 |
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.54 n.6 2010 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 |
_version_ |
1754734811021312000 |