[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].

OBJECTIVE

To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).

METHODS

Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.

RESULTS

Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.

CONCLUSION

All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.