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The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia
Author(s): 
Pages: 1001-1006
Year: Issue:  12
Journal: Chinese Journal of Internal Medicine

Keyword:  MutationArrhythmogenic right ventricular cardiomyopathy/dysplasiaPlakophilin-2 gene;
Abstract: Objective The purpose of this study was to screen genetic variations in plakophilin-2 (PKP2) gene in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) and investigate the differences in clinical features between mutation and no-mutation groups.Methods Thirty unrelated Chinese patients clinically diagnosed with ARVC/D and 50 healthy controls were included.Genomic DNA was isolated from peripheral blood samples.PCR and direct sequencing were used to detect variations in PKP2 gene.Results Eight PKP2 mutant variants were identified in 10 ARVC/D patients (8 men,2 women).Among the eight mutation,three (c.2194C > T,c.1170 + 1G > A and c.810_ 813delGGTC) were novel mutation.Clinical features of the PKP2 mutation group were similar to those of the non-mutation group.Conclusions The rate of PKP2 mutation is 33.3% (10/30) in ARVC/D patients.The penetrance of PKP2 mutation for ARVC/D tends to be higher in man patients.No significant differences could be detected in phenotype characteristics between patients with and without PKP2 mutation.
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