China Journal of Leprosy and Skin Diseases ›› 2019, Vol. 35 ›› Issue (6): 327-329.doi: 10.12144/zgmfskin201906327

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Detection of ATP2C1 gene in five pedigrees with Hailey-Hailey disease

WANG Ting1, CUI Hongzhou2, WANG Detong1, GAO Jie1, GUO Shuping2   

  1. 1. Shanxi Medical University，Taiyuan 030001，China; 
    2. Department of Dermatology，First Hospital of Shanxi Medical University，Taiyuan 030000，China; 
    3. Shanxi Provincial People's Hospital, Taiyuan 030012, China
  • Online:2019-06-15 Published:2019-06-06
  • Contact: GUO Shuping，E-mail：gsp6688@sina.com

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Abstract: Objective: To detect the mutation of ATP2C1 gene in five Chinese Han pedigrees with Hailey-Hailey disease (HHD). Methods: DNA was extracted from blood samples in 12 affected and 13 unaffected members in 5 pedigrees of HHD and 100 healthy controls. All the exons and flanking sequence of ATP2C1 gene were amplified by PCR. The products were purified and directly sequenced by sanger sequencing. Chromas was used to screen for mutations. Results: c.1738A>G (p.I580V) in exon 18, c.2416C>T (p.R806*) in exon 25 and  c.1250G>A (p.R417K) in exon 15 in ATP2C1 were found in 3 pedigrees respectively. There was no mutation was found other two pedigrees. These mutations were not found in the healthy members of the families and the 100 healthy controls. Conclusion: These 3 mutations in the ATP2C1 gene may be the causative factor of HHD in these 3 pedigrees.

Key words: Hailey-Hailey disease, ATP2C1 gene