GeneATP2C1 mutation analysis for four Chinese families with Hailey-Hailey disease
Abstract：ObjectiveTo identifyATP2C1 gene mutations in four Chinese families with Hailey-Hailey disease (HHD). MethodsGenomic DNA was extracted from peripheral blood of 9 patients and 6 healthy individuals of 4 HHD families and 100 unrelated normal individuals. All 28 coding exons and their lfanking sequences ofATP2C1 were ampliifed by polymerase chain reaction (PCR), then direct DNA sequencing and comparative analysis were performed.ResultsThree ATP2C1 gene heterozygous mutations, c.888_889insT (p.296TfsX2), c.1330delC (p.443QfsX33) and c.2416C>T (p.Arg806X), were identiifed in 9 patients with HHD. The mutations were not found in the healthy members of the 4 families and normal controls.ConclusionTwo novel heterozygous mutations ofATP2C1 gene, c.888_889insT (p.296TfsX2) and c.1330delC (p.443QfsX33), were found among these HHD cases in this study. Our ifndings provided data for molecular diagnosis of these HHD patients, and added new variants to the database ofATP2C1 mutations associated with HHD.
Keywords：Hailey-Hailey diseaseMutation analysisATP2C1 geneDNA sequencing
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 296-299 )