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

• Autor(a) principal: Antunes-Duarte, Sofia
• Data de Publicação: 2021
• Outros Autores: Mendonça-Sanches , Maria, Pimenta , Rita, Coutinho , Ana Margarida, Silveira , Catarina, Soares-de-Almeida , Luís, Filipe, Paulo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.29021/spdv.79.4.1409
• topic: 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

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.