Open AccessTwo Novel Variants and One Previously Reported Variant in the <b><i>ATP2C1</i></b> Gene in Chinese Hailey-Hailey Disease Patients
Author(s) -
Zhilong Xiao,
Zhigang Liu,
Xiaoliang OU Yang,
Simin Yu,
Jianrong Zeng,
Chunming Li
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000514282
Subject(s) - hailey–hailey disease , genodermatosis , intertriginous , genetics , missense mutation , penetrance , gene , mutation , medicine , polymerase chain reaction , pedigree chart , compound heterozygosity , nonsense mutation , biology , disease , pathology , phenotype
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.