Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients

Zhen Xiao; Zhi-Gang Liu; Xiao-Liang Ou Yang; Si-Min Yu; Jian-Rong Zeng; Chun-Ming Li

doi:10.1159/000514282

Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients

Mol Syndromol. 2021 Jun;12(3):148-153. doi: 10.1159/000514282. Epub 2021 May 4.

Authors

Zhen Xiao¹, Zhi-Gang Liu¹, Xiao-Liang Ou Yang¹, Si-Min Yu¹, Jian-Rong Zeng², Chun-Ming Li¹

Affiliations

¹ Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
² Department of Dermatology, The Third People's Hospital of Fengcheng City, Yichun, China.

Abstract

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis. It is characterized clinically by recurrent erosions, blisters and erythematous plaques at the sites of friction and intertriginous areas. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1). In this study, genomic DNA polymerase chain reaction (PCR) and direct sequencing of ATP2C1 were performed from 3 Chinese pedigrees and 4 sporadic cases of HHD. We detected 3 heterozygous mutations, including 2 novel mutations (c.1673_1674insGTTG and c.2225A>G) and 1 recurrent nonsense mutation (c.1402C>T; NM_014382.4). The ATP2C1 gene was also screened in the asymptomatic members of pedigrees. Our results would further expand the mutation spectrum of the ATP2C1 gene and be helpful in the genetic counseling of patients with HHD.

Keywords: ATP2C1; Hailey-Hailey disease; Novel mutations; Sanger sequencing.