Abstract:

Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease （HHD）. Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent. Blood samples were taken from all patients and 100 unrelated human controls, and DNA was extracted from these samples. Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction （PCR） and direct sequencing. Results The diagnosis of all cases was confirmed by typical clinical manifestation, cutaneous pathology and immunofluorescence pathology. Five novel mutations, including a deletion mutation （2025delG）, three missence mutations （L269R, C348R, A651D） and a non-sense mutation （Q259X ） were identified in these cases. No mutations were detected in any of the 100 controls. Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.

Key words: Hailey-Hailey disease, ATP2C1 gene, Mutation analysis