DOAJ Open Access 2021

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

Sofia Antunes-Duarte Maria Mendonça-Sanches Rita Pimenta Ana Margarida Coutinho Catarina Silveira +2 lainnya

Abstrak

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.

Topik & Kata Kunci

Dermatology Infectious and parasitic diseases

Penulis (7)

Sofia Antunes-Duarte

Maria Mendonça-Sanches

Rita Pimenta

Ana Margarida Coutinho

Catarina Silveira

Luís Soares-de-Almeida

Paulo Filipe

Format Sitasi

APA MLA BibTeX

Antunes-Duarte, S., Mendonça-Sanches, M., Pimenta, R., Coutinho, A.M., Silveira, C., Soares-de-Almeida, L. et al. (2021). Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease. https://doi.org/10.29021/spdv.79.4.1409

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Informasi Jurnal

Tahun Terbit: 2021
Sumber Database: DOAJ
DOI: 10.29021/spdv.79.4.1409
Akses: Open Access ✓