title: A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease.
abstract: Benign familial chronic pemphigus (Hailey-Hailey disease, HHD; MIM 169600) is a rare autosomal dominant hereditary disorder characterized by pruritic vesicles, painful erosions and scaly erythematous plaques at the sites of friction and flexures. Mutations in ATP2C1, which encoding the human secretory pathway Ca²(+)/Mn²(+)-ATPase protein 1 (hSPCA1), have been identified as the pathogenic gene of HHD. We found a novel, distinct, heterozygous mutation during study of a Chinese patient with HHD. We identified a C→T transition at nucleotide 1235 (p.Thr352IIe), in exon 13 of ATP2C1. This observation would be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the repertoire of ATP2C1 mutations underlying HHD.
authors.affiliation: Department of Dermatology, The General Hospital of the Air Force, Beijing, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Cheng
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Cheng
authors.forename: Guang
authors.initials: G
authors.lastname: Zhao
authors.forename: Meng-Chun
authors.initials: MC
authors.lastname: Jia
mesh_terms: D044466:Asian People; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004890:Erythema / Q000235:genetics / Q000473:pathology; D006119:Groin; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics* / Q000473:pathology
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases