Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.23/1270 |
Resumo: | INTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. RESULTS: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). CONCLUSION: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously. |
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Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1aAnálise Mutacional de DNAPseudo-Hipoparatireoidismo/genéticaPredisposição Genética para DoençaINTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. RESULTS: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). CONCLUSION: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously.Repositório Científico do Hospital de BragaMoutinho, ACarvalho, RFerreira-Reis, RTavares, S2018-07-06T11:26:30Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/1270engCase Rep Endocrinol. 2018 Jan 22;2018:7813591.10.1155/2018/7813591info: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:RCAAP2022-09-21T09:03:10Zoai:repositorio.hospitaldebraga.pt:10400.23/1270Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:55:48.282714Repositório 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 |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
title |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
spellingShingle |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a Moutinho, A Análise Mutacional de DNA Pseudo-Hipoparatireoidismo/genética Predisposição Genética para Doença |
title_short |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
title_full |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
title_fullStr |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
title_full_unstemmed |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
title_sort |
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a |
author |
Moutinho, A |
author_facet |
Moutinho, A Carvalho, R Ferreira-Reis, R Tavares, S |
author_role |
author |
author2 |
Carvalho, R Ferreira-Reis, R Tavares, S |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Hospital de Braga |
dc.contributor.author.fl_str_mv |
Moutinho, A Carvalho, R Ferreira-Reis, R Tavares, S |
dc.subject.por.fl_str_mv |
Análise Mutacional de DNA Pseudo-Hipoparatireoidismo/genética Predisposição Genética para Doença |
topic |
Análise Mutacional de DNA Pseudo-Hipoparatireoidismo/genética Predisposição Genética para Doença |
description |
INTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report. RESULTS: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del). CONCLUSION: Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-07-06T11:26:30Z 2018-01-01T00:00:00Z 2018-01-01T00:00:00Z |
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/10400.23/1270 |
url |
http://hdl.handle.net/10400.23/1270 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Case Rep Endocrinol. 2018 Jan 22;2018:7813591. 10.1155/2018/7813591 |
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.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 |
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RCAAP |
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RCAAP |
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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) |
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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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1799130426938228736 |