Common Genotypes of XXXX in China and the Role of ECG Prediction.

@entity1 @entity1788 @entity9677 @entity1162 @entity9678
OBJECTIVES: Genetic testing, a gold standard for @entity1162 ( @entity1162 ) diagnosis, is time-consuming and costly when all the 15 candidate genes are screened. Since genotype-specific ECG patterns are present in most @entity9677 -3 mutation carriers, we tested the utility of ECG-guided genotyping in a large cohort of Chinese @entity1162 @entity1 . METHODS AND RESULTS: We enrolled 230 @entity1 (26    17 years, 66% female) with a clinical diagnosis of @entity1162 . Genotypes were predicted as @entity9677 -3 based on the presence of ECG patterns typical for each genotype in 200 @entity1 (85 @entity9677 , 110 @entity9678 and 5 @entity1788 ). Family-based genotype prediction was also conducted if gene-specific ECG patterns were found in other affected family members. Mutational screening identified 104 mutations (44% novel), i.e. 46 @entity9677 , 54 @entity9678 and 4 @entity1788 mutations. The overall predictive accuracy of ECG-guided genotyping was 79% (157/200) and 79% (67/85), 78% (86/110) and 80% (4/5) for @entity9677 , @entity9678 and @entity1788 , respectively. The predictive accuracy was 98% (42/43) when family-based ECG assessment was performed. CONCLUSIONS: From this large-scale genotyping study, we found that @entity9678 is the most common genotype among the Chinese. Family-based ECG-guided genotyping is highly accurate. ECG-guided genotyping is time- and cost-effective. We therefore recommend it as an optimal approach for the genetic diagnosis of @entity1162 .
