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- Title
Novel mutations in the ATP2C1 gene in two patients with Hailey–Hailey disease.
- Authors
Rácz, Emoke; Csikós, M.; Kárpáti, S.
- 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.
- Subjects
PEMPHIGUS; CHRONIC diseases; GENETIC disorders; ADENOSINE triphosphate; GENETIC mutation; GENES
- Publication
Clinical & Experimental Dermatology, 2005, Vol 30, Issue 5, p575
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/j.1365-2230.2005.01879.x