Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060 |
Resumo: | ABSTRACT Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey DiseaseCalcium-Transporting ATPases/geneticsFrameshift MutationMutationPemphigus, Benign Familial/diagnosisPemphigus, Benign Familial/genetics.ABSTRACT Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.Sociedade Portuguesa de Dermatologia e Venereologia2021-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060Revista da Sociedade Portuguesa de Dermatologia e Venereologia v.79 n.4 2021reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060Antunes-Duarte,SofiaMendonça-Sanches,MariaPimenta,RitaCoutinho,Ana MargaridaSilveira,CatarinaSoares-de-Almeida,LuísFilipe,Pauloinfo:eu-repo/semantics/openAccess2024-02-06T17:26:33Zoai:scielo:S2182-23952021000400060Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:31:39.181446Repositório 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 |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
title |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
spellingShingle |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease Antunes-Duarte,Sofia Calcium-Transporting ATPases/genetics Frameshift Mutation Mutation Pemphigus, Benign Familial/diagnosis Pemphigus, Benign Familial/genetics. |
title_short |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
title_full |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
title_fullStr |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
title_full_unstemmed |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
title_sort |
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease |
author |
Antunes-Duarte,Sofia |
author_facet |
Antunes-Duarte,Sofia Mendonça-Sanches,Maria Pimenta,Rita Coutinho,Ana Margarida Silveira,Catarina Soares-de-Almeida,Luís Filipe,Paulo |
author_role |
author |
author2 |
Mendonça-Sanches,Maria Pimenta,Rita Coutinho,Ana Margarida Silveira,Catarina Soares-de-Almeida,Luís Filipe,Paulo |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Antunes-Duarte,Sofia Mendonça-Sanches,Maria Pimenta,Rita Coutinho,Ana Margarida Silveira,Catarina Soares-de-Almeida,Luís Filipe,Paulo |
dc.subject.por.fl_str_mv |
Calcium-Transporting ATPases/genetics Frameshift Mutation Mutation Pemphigus, Benign Familial/diagnosis Pemphigus, Benign Familial/genetics. |
topic |
Calcium-Transporting ATPases/genetics Frameshift Mutation Mutation Pemphigus, Benign Familial/diagnosis Pemphigus, Benign Familial/genetics. |
description |
ABSTRACT Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-12-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060 |
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 Portuguesa de Dermatologia e Venereologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
dc.source.none.fl_str_mv |
Revista da Sociedade Portuguesa de Dermatologia e Venereologia v.79 n.4 2021 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
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1799137377043611648 |