title: Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
abstract: Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene encoding the human secretory pathway calcium ATPase 1 (hSPCA1) have been identified as the causative mutations in HHD. In this study, we used direct sequencing and restriction endonuclease digestion to analyze mutations of the ATP2C1 gene in a Chinese three-generation pedigree. A heterozygous T-to-C transition at nucleotide 1004 in exon 12 of ATP2C1 gene was detected. After summarizing the reported cases with ATP2C1 mutation, we concluded that the T1004C transition resulted in a novel missense mutation of leucine condon (CTG) to proline (CCG) at amino acid residue 335(L335P) in hSPCA1. Here, a genetic diagnosis was made for the proband's daughter before the clinical presentation. The study realized the molecular diagnosis in the HHD pedigree. Our findings should be useful for genetic counseling and prenatal diagnosis for the affected family and in demonstrating the critical role of the ATP2C1 gene in the pathogenesis of HHD further.
authors.affiliation: Department of Dermatology, The Second Affiliated Hospital of Harbin Medical University, 246 Xuefu Road, Harbin, Heilongjiang, 150086, China.
authors.forename: Yue-Mei
authors.initials: YM
authors.lastname: Ma
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Liang
authors.forename: Lie
authors.initials: L
authors.lastname: Ma
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.forename: Qiao-Yun
authors.initials: QY
authors.lastname: Fang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Yu-Zhen
authors.initials: YZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases