title: Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease.
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.
authors.affiliation: Department of Dermato-Venereology, Semmelweis University, Budapest, Hungary. raczem@bor.sote.hu
authors.forename: E
authors.initials: E
authors.lastname: Rácz
authors.forename: M
authors.initials: M
authors.lastname: Csikós
authors.forename: S
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D000368:Aged; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000235:genetics*
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases