Key result
Genetic testing for Long-QT syndrome revealed mutations were more common in cases than controls (0.58 vs 0.06 per individual), with nonmissense mutations having >99% predictive value.
Why the study?
Does mutation type and location determine the probability of pathogenicity for mutations in long-QT syndrome?
Population
388 unrelated "definite" cases of LQTS and >1300 healthy controls
Comparison
Genetic testing for mutations in KCNQ1, KCNH2… vs Healthy controls
Design
Case-control
Authors
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May aid LQTS variant classification by mutation type; leaves open prospective validation before diagnostic adoption.
Case-Control (n=1,688)
Does mutation type and location determine the probability of pathogenicity for mutations in long-QT syndrome?
Absolute Event Rate: 0.58% vs 0.06%
Kapa et al. (2009) conducted a case-control in Long-QT syndrome (LQTS) (n=1,688). Genetic testing (KCNQ1, KCNH2, and SCN5A) vs. Healthy controls was evaluated on Mutation frequency. Genetic testing for Long-QT syndrome revealed mutations were more common in cases than controls (0.58 vs 0.06 per individual), with nonmissense mutations having >99% predictive value.
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