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

  • Sofia Antunes-Duarte Serviço de Dermatologia, Hospital de Santa Maria, Centro Hospitalar e Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0000-0003-3662-0423
  • Maria Mendonça-Sanches Serviço de Dermatologia, Hospital de Santa Maria, Centro Hospitalar e Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0000-0001-6940-0123
  • Rita Pimenta Serviço de Dermatologia, Hospital de Santa Maria, Centro Hospitalar e Universitário de Lisboa Norte, Lisboa, Portugal https://orcid.org/0000-0003-4649-7350
  • Ana Margarida Coutinho GenoMed - Diagnósticos de Medicina Molecular SA, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal https://orcid.org/0000-0001-5422-2440
  • Catarina Silveira GenoMed - Diagnósticos de Medicina Molecular SA, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal https://orcid.org/0000-0002-4693-1316
  • Luís Soares-de-Almeida Serviço de Dermatologia, Hospital de Santa Maria, Centro Hospitalar e Universitário de Lisboa Norte, Lisboa, Portugal; Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal http://orcid.org/0000-0003-4026-6105
  • Paulo Filipe Serviço de Dermatologia, Hospital de Santa Maria, Centro Hospitalar e Universitário de Lisboa Norte, Lisboa, Portugal; Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal https://orcid.org/0000-0001-6917-527X
Keywords: 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.

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References

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Published
2021-12-27
How to Cite
Antunes-Duarte, S., Mendonça-Sanches , M., Pimenta , R., Coutinho , A. M., Silveira , C., Soares-de-Almeida , L., & Filipe, P. (2021). Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease. Journal of the Portuguese Society of Dermatology and Venereology, 79(4), 373-376. https://doi.org/10.29021/spdv.79.4.1409
Section
Case Reports

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