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.
Conclusion: A novel mutation of F189L in the CASQ2 gene was identified.