Duas Novas Mutações do Gene ATP2C1 em Doentes Portuguesas com Doença de Hailey-Hailey
| Autor: | Sofia Antunes-Duarte, Maria Mendonça-Sanches, Rita Pimenta, Ana Margarida Coutinho, Catarina Silveira, Luís Soares-de-Almeida, Paulo Filipe |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pemphigus
Benign Familial/diagnosis Pênfigo Familiar Benigno/genética Dermatology Infectious and parasitic diseases RC109-216 ATPases Transportadoras de Cálcio/genética Pemphigus Benign Familial/genetics Calcium-Transporting ATPases/genetics Pênfigo Familiar Benigno/diagnóstico RL1-803 Mutation Mutação da Fase de Leitura Frameshift Mutation Mutação |
| Zdroj: | Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 79, Iss 4 (2021) Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 79 n. 4 (2021): Outubro-Dezembro; 373-376 Journal of the Portuguese Society of Dermatology and Venereology; Vol 79 No 4 (2021): October-December; 373-376 Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP |
| ISSN: | 2182-2409 2182-2395 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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