title: Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease.
abstract: Hailey-Hailey disease (HHD; OMIM 169600) is an autosomal dominant blistering disease. Pathogenic mutations in ATP2C1 encoding the human secretory pathway Ca(2+)/Mn(2+)-ATPase protein 1 (hSPCA1) have been identified since 2000. The aim of this study was to report a Chinese pedigree and a sporadic case of HHD and to explore the genetic mutations. The Chinese pedigree and the sporadic case of typical HHD were subjected to mutation detection of ATP2C1. The 27 coding exons and their flanking sequences were amplified and sequenced. The heterozygous C to T transition at nucleotide 2753 in exon 26 and G to T transition at nucleotide 2090 in exon 21 of the ATP2C1 gene were identified in a pedigree and a sporadic case of HHD, respectively. The C2753T transition resulted in a novel nonsense mutation of glutamine codon (CAG) to a stop codon (TAG) at amino acid residue 865 (Q865X) and the G2090T transition resulted in a novel missense mutation of glycine condon (GGA) to Valine (GUA) at amino acid residue 645 (G645V) in hSPCA1. This study should 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 Second Hospital, Key Laboratory of Gene and Environment of Ministry of Education, Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, Shaanxi 710004, Peoples Republic of China.
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Li
authors.forename: Shengxiang
authors.initials: S
authors.lastname: Xiao
authors.forename: Zhenhui
authors.initials: Z
authors.lastname: Peng
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Junmin
authors.initials: J
authors.lastname: Wang
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases