[A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia].
OBJECTIVE
To identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members.


METHODS
Mutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay.


RESULTS
A novel heterozygous mutation, F189L, in CASQ2 gene was identified in one family with CPVT. This mutation occurred at the evolutionarily, highly conserved phenylalanine residue at codon 189, and was not present in 1400 control individuals. No other disease-causing mutations were identified in the CASQ2 gene.


CONCLUSIONS
A novel mutation of F189L in the CASQ2 gene was identified.
Liu
Qian-qian
QQ
Department of Cardiology, Peopleos Hospital of Peking University, Beijing, 100044 People's Republic of China.
Oberti
Carlos
C
Zhang
Xian-qin
XQ
Ke
Tie
T
Zhang
Teng
T
Scheinman
Melvin
M
Hu
Da-yi
DY
Wang
Qing Kenneth
QK
D002155:Calsequestrin / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017180:Tachycardia, Ventricular / Q000235:genetics*; D055815:Young Adult
C443109:CASQ2 protein, human; D002155:Calsequestrin