Abstract: Objective: To identify ATP2C1 gene mutations in three Chinese Hailey-Hailey disease (HHD) families. Methods: Next-generation sequencing (NGS) of DNA was performed to screen for ATP2C1 gene mutations in the three Chinese HHD families. Multiple bioinformatics tools, including I-TASSER, Polyphen-2, and SIFT, were used to predict protein structure and function. Results: Three novel splice site mutations of the ATP2C1 gene were identified in the three Chinese families: c.857T＞A, c.747_750dupAGCA, and c.63delG. Computational analysis indicated that these mutations resulted in changes in the local structure of ATP2C1. Conclusion: This study enriches the mutation spectrum of the ATP2C1 gene associated with HHD, which is of great significance for disease diagnosis and genetic counseling.

Key words: Hailey-Hailey disease, gene mutation, ATP2C1 gene