title: Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy.
abstract: BACKGROUND
  Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China.
  
  
  METHODS
  Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing.
  
  
  RESULTS
  In exon-1 of the plakophilin-2 gene, a deletion mutation (c.145_148 del GACA) was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant (P < 0.05).
  
  
  CONCLUSIONS
  We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.
authors.affiliation: Department of Cardiology Guangdong General Hospital, Guangdong Provincial Cardiovascular Institute, Guangzhou, Guangdong 510080, China. shulinwu8888@yahoo.cn
authors.forename: Shu-lin
authors.initials: SL
authors.lastname: Wu
authors.forename: Pei-ning
authors.initials: PN
authors.lastname: Wang
authors.forename: Yue-shuang
authors.initials: YS
authors.lastname: Hou
authors.forename: Xu-chao
authors.initials: XC
authors.lastname: Zhang
authors.forename: Zhi-xin
authors.initials: ZX
authors.lastname: Shan
authors.forename: Xi-yong
authors.initials: XY
authors.lastname: Yu
authors.forename: Mei
authors.initials: M
authors.lastname: Deng
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D051191:Plakophilins / Q000235:genetics*
chemical_list: D051191:Plakophilins