A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia.
- Author:
Qian-qian LIU
1
;
Carlos OBERTI
;
Xian-qin ZHANG
;
Tie KE
;
Teng ZHANG
;
Melvin SCHEINMAN
;
Da-yi HU
;
Qing Kenneth WANG
Author Information
- Publication Type:Journal Article
- MeSH: Calsequestrin; genetics; DNA Mutational Analysis; Genetic Predisposition to Disease; genetics; Genotype; Humans; Male; Mutation; Pedigree; Tachycardia, Ventricular; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2008;25(3):334-337
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members.
METHODSMutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay.
RESULTSA 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.
CONCLUSIONA novel mutation of F189L in the CASQ2 gene was identified.
