Study on gene mutation in 11 Chinese families with Hailey-Hailey disease / 北京大学学报(医学版)

ABSTRACT

Objective: To screen and identify gene mutations of 11 Chinese patients with Hailey Hailey disease (HHD). Methods: Cases of HHD were diagnosed by history, clinical menifestations and pathology. Then genomic DNA samples of patients were extracted from perpheral blood leukocytes, and polymerase chain reaction(PCR), DNA sequencing were performed. Results: We found five mutations in ATP2C1 gene including 3 nonsense mutations and 2 splicing mutations. Four of them were novel mutations. Conclusion: Both nonsense mutation and splicing mutation could affect the rusult of transcription,translation, and the functions of protein encoded by ATP2C1 gene, so the mutations reported in this study is the underlying cause of HHD.