Publicação
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease
| Resumo: | 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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| Autores principais: | Antunes-Duarte, Sofia |
| Outros Autores: | Mendonça-Sanches , Maria; Pimenta , Rita; Coutinho , Ana Margarida; Silveira , Catarina; Soares-de-Almeida , Luís; Filipe, Paulo |
| Assunto: | Calcium-Transporting ATPases/genetics Frameshift Mutation Mutation Pemphigus, Benign Familial/diagnosis Pemphigus, Benign Familial/genetics ATPases Transportadoras de Cálcio/genética Mutação Mutação da Fase de Leitura Pênfigo Familiar Benigno/diagnóstico Pênfigo Familiar Benigno/genética |
| Ano: | 2021 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | unknown |
| Instituição associada: | Sociedade Portuguesa de Dermatologia e Venereologia |
| Idioma: | inglês |
| Origem: | Portuguese Journal of Dermatology |
| Resumo: | 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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