Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy.
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.
Wu
Shu-lin
SL
Department of Cardiology Guangdong General Hospital, Guangdong Provincial Cardiovascular Institute, Guangzhou, Guangdong 510080, China. shulinwu8888@yahoo.cn
Wang
Pei-ning
PN
Hou
Yue-shuang
YS
Zhang
Xu-chao
XC
Shan
Zhi-xin
ZX
Yu
Xi-yong
XY
Deng
Mei
M
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*
D051191:Plakophilins