title: [The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia].
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.
authors.forename: Xin
authors.initials: X
authors.lastname: Liu
authors.affiliation: Cardiology Center, Peking University People's Hospital, Beijing 100044, China; Email: wlliu@21cn.com.
authors.forename: Wenling
authors.initials: W
authors.lastname: Liu
authors.forename: Dayi
authors.initials: D
authors.lastname: Hu
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Tiangang
authors.initials: T
authors.lastname: Zhu
authors.forename: Cuilan
authors.initials: C
authors.lastname: Li
authors.forename: Xiaoliang
authors.initials: X
authors.lastname: Qiu
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Chengjun
authors.initials: C
authors.lastname: Guo
authors.forename: Xingpeng
authors.initials: X
authors.lastname: Liu
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Hua
authors.initials: H
authors.lastname: Zheng
authors.forename: Chunling
authors.initials: C
authors.lastname: Wang
authors.forename: Qing
authors.initials: Q
authors.lastname: Diao
authors.forename: Dan
authors.initials: D
authors.lastname: Shi
authors.forename: Pingyun
authors.initials: P
authors.lastname: Zhan
authors.forename: Yuanming
authors.initials: Y
authors.lastname: Deng
authors.forename: Kunshen
authors.initials: K
authors.lastname: Liu
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.forename: Baomin
authors.initials: B
authors.lastname: Liu
authors.forename: Hongming
authors.initials: H
authors.lastname: Liu
authors.forename: Xuguang
authors.initials: X
authors.lastname: Qin
authors.forename: Yanping
authors.initials: Y
authors.lastname: Lan
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D051191:Plakophilins / Q000235:genetics*
chemical_list: C495337:PKP2 protein, human; D051191:Plakophilins