Abstract: Objective To analyse gene mutation in members of a Chinese family with Hailey-Hailey disease(HHD)and study the relationship between the genotype and clinical features of the disease.Methods Genomic DNA of leucocytes were obtained from members of the Chinese family with HHD including 4 patients and 6 normal persons.Ten exons of ATP2C1 gene were amplified by polymerase chain reaction(PCR)and the products were analysed by single-strand conformation polymorphism(SSCP)and direct DNA sequencing.Results A novel mutation was identified in this family.The sequence of"TGTAGCCAT"(2068→2076)was substituded by"AGATGGAACA",which caused a frame shift of open reading frame and premature termination codon(PTC)in gene ATP2C1.There was no relationship between the genotypes and the phenotypes.Conclusion Gene mutation of ATP2C1gene at exon 21 is the cause for HHD in this family.

Key words: Pemphigus,benign familial, Polymorphism,single-stranded conformational, Mutation, ATP2C1 gene