Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease

Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease

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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Main Authors: Antunes-Duarte,Sofia, Mendonça-Sanches,Maria, Pimenta,Rita, Coutinho,Ana Margarida, Silveira,Catarina, Soares-de-Almeida,Luís, Filipe,Paulo
Format: Digital revista
Language:English
Published: Sociedade Portuguesa de Dermatologia e Venereologia 2021
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060
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spelling oai:scielo:S2182-239520210004000602022-04-26Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey DiseaseAntunes-Duarte,SofiaMendonça-Sanches,MariaPimenta,RitaCoutinho,Ana MargaridaSilveira,CatarinaSoares-de-Almeida,LuísFilipe,Paulo Calcium-Transporting ATPases/genetics Frameshift Mutation Mutation Pemphigus, Benign Familial/diagnosis Pemphigus, 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.info:eu-repo/semantics/openAccessSociedade Portuguesa de Dermatologia e VenereologiaRevista da Sociedade Portuguesa de Dermatologia e Venereologia v.79 n.4 20212021-12-01info:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060en10.29021/spdv.79.4.1409
institution SCIELO
collection OJS
country Portugal
countrycode PT
component Revista
access En linea
databasecode rev-scielo-pt
tag revista
region Europa del Sur
libraryname SciELO
language English
format Digital
author Antunes-Duarte,Sofia
Mendonça-Sanches,Maria
Pimenta,Rita
Coutinho,Ana Margarida
Silveira,Catarina
Soares-de-Almeida,Luís
Filipe,Paulo
spellingShingle Antunes-Duarte,Sofia
Mendonça-Sanches,Maria
Pimenta,Rita
Coutinho,Ana Margarida
Silveira,Catarina
Soares-de-Almeida,Luís
Filipe,Paulo
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease
author_facet Antunes-Duarte,Sofia
Mendonça-Sanches,Maria
Pimenta,Rita
Coutinho,Ana Margarida
Silveira,Catarina
Soares-de-Almeida,Luís
Filipe,Paulo
author_sort Antunes-Duarte,Sofia
title Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease
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
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.
publisher Sociedade Portuguesa de Dermatologia e Venereologia
publishDate 2021
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952021000400060
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AT pimentarita twonovelatp2c1mutationsinportuguesepatientswithhaileyhaileydisease
AT coutinhoanamargarida twonovelatp2c1mutationsinportuguesepatientswithhaileyhaileydisease
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