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Previous studies have demonstrated that the prevalence rate of R1193Q in SCN5A gene ranges from 0.2–12% and suggested this mutation may be a risk factor for long QT syndrome (LQTS).1 2 However, Chen et al showed no association between R1193Q and the disease process or electrocardiographic (ECG) abnormalities in a four generation Chinese family with cardiac conduction abnormalities and sudden death.1
We recently identified the R1193Q polymorphism by direct DNA sequencing of SCN5A in a four generation Han Chinese pedigree with progressive cardiac conduction defect (PCCD) and LQTS. Out of the seven R1193Q carriers, five (III-7, III-10, III-12, III-13, IV-5) were diagnosed as PCCD, and two (III-10, III-12) also had prolonged QTc; one carrier (III-1) had no PCCD but with borderline prolonged QTc; only the …
Competing interests: None declared.
Patient consent: Informed consent was obtained for the publication of the family’s details in this report.