Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease

Emoke Rácz, M. Csikós, S. Kárpáti

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been identified as possible causative mutations. Studying Hungarian patients with HHD, we found two novel, distinct, heterozygous mutations. In a 65-year-old man with a 41-year history of severe recurrent symptoms, a single nucleotide insertion, 1085insA, was detected. In a patient whose symptoms were induced by environmental contact allergens, we found a nonsense mutation, Q506X, in exon 17. Our study further illustrates the diversity of mutational events in the pathogenesis of HHD.

Original languageEnglish
Pages (from-to)575-577
Number of pages3
JournalClinical and Experimental Dermatology
Volume30
Issue number5
DOIs
Publication statusPublished - Sep 2005

Fingerprint

Benign Familial Pemphigus
Mutation
Genes
Calcium-Transporting ATPases
Friction
Nonsense Codon
Secretory Pathway
Blister
Allergens
Exons
Nucleotides

ASJC Scopus subject areas

  • Dermatology

Cite this

Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease. / Rácz, Emoke; Csikós, M.; Kárpáti, S.

In: Clinical and Experimental Dermatology, Vol. 30, No. 5, 09.2005, p. 575-577.

Research output: Contribution to journalArticle

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