中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (2): 73-78.doi: 10.12144/zgmfskin202602073

• 论著 • 上一篇    下一篇

中国Hailey-Hailey病家系ATP2C1基因突变位点检测与分析

张雪彤1,2*,谢宜榕3*,周生儒1,杨轶帆1,李敏1   

  1. 1苏州大学第四附属医院，江苏苏州,215000； 2教育部皮肤病学重点实验室（安徽医科大学），安徽合肥,230032； 3厦门长庚医院，福建厦门,361028 *共同第一作者
  • 出版日期:2026-02-15 发布日期:2026-01-28

Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease

ZHANG Xuetong1,2*, HSIEH Ijung3*, ZHOU Shengru1, YANG Yifan1, LI Min1   

  1. 1 The Fourth Affiliated Hospital of Soochow University, Suzhou 215000, China; 2 Key Laboratory of Dermatology, Ministry of Education (Anhui Medical University), Hefei 230032, China; 3 Xiamen Chang Gung Hospital, Xiamen 361028, China *Co-first authors
  • Online:2026-02-15 Published:2026-01-28

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摘要： 目的：明确三个中国Hailey-Hailey病(HHD)家系的ATP2C1基因突变。方法：通过DNA二代测序对三个中国HHD家系进行ATP2C1基因突变筛查。利用I-TASSER、Polyphen-2和SIFT等多种生物信息学工具对蛋白质结构和功能进行预测。结果：三个中国家系中鉴定出ATP2C1基因的三种新的剪接位点突变：c.857T＞A、c.747_750dupAGCA 和c.63delG。计算分析表明，这些突变导致了ATP2C1局部结构的改变。结论：本研究丰富了与HHD相关的ATP2C1基因突变谱，这对于疾病的诊断和遗传咨询具有重要意义。

关键词: Hailey-Hailey病, 基因突变, ATP2C1基因

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