Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/606 |
Resumo: | Congenital hypothyroidism (CH) affects about 1:4000 infants and is considered one of the main causes of preventable mental retardation in children. Universal screening of CH performed through the Portuguese National Neonatal Screening Programme, implemented in Portugal in 1985, has resulted in normal development of attained children. Birth defects of the thyroid can be divided into several groups that represent either changes in the development of the gland or the consequences observed in the deficient synthesis of thyroid hormones. The defects of hormone synthesis caused by dyshor - monogenesis occur in only 10% to 15% of cases of HC. Defects in the thyroid peroxidase (TPO) gene are reported to be one of the most frequent causes of CH due to dyshormonogenesis. The aim is to review the mutational spectrum of the TPO gene in the portuguese population through the molecular investigation of 69 patients with permanent CH due to dys - hormonogenesis. To complement previous results, published in 2005, this work describes the molecular characterization of a further fourteen children with CH and the methodology applied. Extensive in-silico analysis was carried out for the newly identified sequence changes as well as the formerly published putative splicing variant. The sequence variations identified in the TPO gene comprise ten distinct mutations and 29 polymorphisms, enabling the determination of the molecular etiology of CH in fifteen patients. In conclusion, it was possible to obtain a differential diagnosis in twelve fami - lies with CH, using a non-invasive procedure and without interruption of medication. Identification of these and other mutations in the TPO gene can therefore contribute considerably towards diagnosis, a precise genetic counselling, adequate monitoring in future pregnancies as well as putative personalized therapies. |
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Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogéneseHipotiroidismo CongénitoDisormonogéneseGene TPOEspectro MutacionalPeroxidase da TiroideDoenças GenéticasCongenital hypothyroidism (CH) affects about 1:4000 infants and is considered one of the main causes of preventable mental retardation in children. Universal screening of CH performed through the Portuguese National Neonatal Screening Programme, implemented in Portugal in 1985, has resulted in normal development of attained children. Birth defects of the thyroid can be divided into several groups that represent either changes in the development of the gland or the consequences observed in the deficient synthesis of thyroid hormones. The defects of hormone synthesis caused by dyshor - monogenesis occur in only 10% to 15% of cases of HC. Defects in the thyroid peroxidase (TPO) gene are reported to be one of the most frequent causes of CH due to dyshormonogenesis. The aim is to review the mutational spectrum of the TPO gene in the portuguese population through the molecular investigation of 69 patients with permanent CH due to dys - hormonogenesis. To complement previous results, published in 2005, this work describes the molecular characterization of a further fourteen children with CH and the methodology applied. Extensive in-silico analysis was carried out for the newly identified sequence changes as well as the formerly published putative splicing variant. The sequence variations identified in the TPO gene comprise ten distinct mutations and 29 polymorphisms, enabling the determination of the molecular etiology of CH in fifteen patients. In conclusion, it was possible to obtain a differential diagnosis in twelve fami - lies with CH, using a non-invasive procedure and without interruption of medication. Identification of these and other mutations in the TPO gene can therefore contribute considerably towards diagnosis, a precise genetic counselling, adequate monitoring in future pregnancies as well as putative personalized therapies.Sociedade Portuguesa de PediatriaRepositório Científico do Instituto Nacional de SaúdeNogueira, CéliaVaz Osório, RuiSantos, RosárioJorge, Paula2012-02-17T11:01:51Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/606porActa Pediátrica Portuguesa 2011;41(6):246-2510873-9781info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:22Zoai:repositorio.insa.pt:10400.18/606Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:58.014371Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
title |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
spellingShingle |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese Nogueira, Célia Hipotiroidismo Congénito Disormonogénese Gene TPO Espectro Mutacional Peroxidase da Tiroide Doenças Genéticas |
title_short |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
title_full |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
title_fullStr |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
title_full_unstemmed |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
title_sort |
Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese |
author |
Nogueira, Célia |
author_facet |
Nogueira, Célia Vaz Osório, Rui Santos, Rosário Jorge, Paula |
author_role |
author |
author2 |
Vaz Osório, Rui Santos, Rosário Jorge, Paula |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Nogueira, Célia Vaz Osório, Rui Santos, Rosário Jorge, Paula |
dc.subject.por.fl_str_mv |
Hipotiroidismo Congénito Disormonogénese Gene TPO Espectro Mutacional Peroxidase da Tiroide Doenças Genéticas |
topic |
Hipotiroidismo Congénito Disormonogénese Gene TPO Espectro Mutacional Peroxidase da Tiroide Doenças Genéticas |
description |
Congenital hypothyroidism (CH) affects about 1:4000 infants and is considered one of the main causes of preventable mental retardation in children. Universal screening of CH performed through the Portuguese National Neonatal Screening Programme, implemented in Portugal in 1985, has resulted in normal development of attained children. Birth defects of the thyroid can be divided into several groups that represent either changes in the development of the gland or the consequences observed in the deficient synthesis of thyroid hormones. The defects of hormone synthesis caused by dyshor - monogenesis occur in only 10% to 15% of cases of HC. Defects in the thyroid peroxidase (TPO) gene are reported to be one of the most frequent causes of CH due to dyshormonogenesis. The aim is to review the mutational spectrum of the TPO gene in the portuguese population through the molecular investigation of 69 patients with permanent CH due to dys - hormonogenesis. To complement previous results, published in 2005, this work describes the molecular characterization of a further fourteen children with CH and the methodology applied. Extensive in-silico analysis was carried out for the newly identified sequence changes as well as the formerly published putative splicing variant. The sequence variations identified in the TPO gene comprise ten distinct mutations and 29 polymorphisms, enabling the determination of the molecular etiology of CH in fifteen patients. In conclusion, it was possible to obtain a differential diagnosis in twelve fami - lies with CH, using a non-invasive procedure and without interruption of medication. Identification of these and other mutations in the TPO gene can therefore contribute considerably towards diagnosis, a precise genetic counselling, adequate monitoring in future pregnancies as well as putative personalized therapies. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011 2011-01-01T00:00:00Z 2012-02-17T11:01:51Z |
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://hdl.handle.net/10400.18/606 |
url |
http://hdl.handle.net/10400.18/606 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Acta Pediátrica Portuguesa 2011;41(6):246-251 0873-9781 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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