Abstract:

Objective To analyse the mutation of ATP2C1 gene in a Chinese pedigree with infancy-onset 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 heterozygous splicing mutation, which may be maternally inherited, is detected in exon 9 of ATP2C1 gene in the proband, his mother and uncle.

Key words: [Key words] familial, pemphigus, gene mutation