A novel mutation of ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease / 中华皮肤科杂志

ed in a Chinese pedigree with HHD.

Study on the mutations of ATP2C1 gene in patients with Harley-Harley disease / 中华皮肤科杂志

Objective To detect the mutations of ATP2C1 gene in patients with Hailey-Hailey dis- ease (HHD).Methods PCR and direct sequencing were performed in 17 patients and 120 healthy controls to screen the mutations in the exons of ATP2C1 gene.Results Eight mutations were identified in nine probands, including three deletion mutations (nt1464-1487 del/nt1462-1485del,1523delAT,2375delTTGT),three splice site mutations (360—2A→G,1415—2A→T,2243+2T→C) and two missence mutations (C920T and G1942T).None of the above mutations was found in the controls.Conclusion Eight specific novel mutations were identified in nine probands of HHD,which could be causative factors of the disease.