Two Novel Variants and One Previously Reported Variant in the < b > < i > ATP2C1 < /i > < /b > Gene in Chinese Hailey-Hailey Disease Patients

In this study, genomic DNA polymerase chain reaction (PCR) and direct sequencing ofATP2C1 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#x3e;G) and 1 recurrent nonsense mutation (c.1402C#x3e;T; NM_014382.4). TheATP2C1 gene was also screened in the asymptomatic members of pedigrees. Our results would further expand the mutation spectrum of theATP2C1 gene and be helpful in the genetic counseling of patients with HHD.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research