Mutation analysis of ATP2C1 gene in a Chinese pedigree with infancy-onset Hailey-Hailey disease (HHD).

Objective To analyse the mutation of ATP2C1 gene in a Chinese pedigree with infancyonset HHD.Methods Blood samples were collected from the proband, his affected uncle, 4 unaffected family members, and 50 unrelated normal controls.DNA was extracted and PCR was performed to amplify all the 27 exons and flanking sequences of ATP2C1 gene followed by DNA sequencing.Results A heterozygous splicing mutation, c.699delA, which resulted in a premature termination mutation(PTC)in exon 9 at amino acid 12,was identified in the ATP2C1 gene of the proband, his uncle and mother.Reverse DNA sequencing confirmed the mutation, which was absent in 4 other family members and 50 normal controls.Conclusion A heterozygnus splicing mutation, which may be maternally inherited, is detected in exon 9 of ATP2C1 gene in the proband, his mother and uncle. Key words: Pemphigus,benign familial; Mutation; ATP2C1 gene