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SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family
  1. A Sun1,
  2. L Xu1,
  3. S Wang1,
  4. K Wang1,
  5. W Huang2,
  6. Y Wang2,
  7. Y Zou3,
  8. J Ge3
  1. 1
    Shanghai Institute of Cardiovascular Diseases, and Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai, China
  2. 2
    Chinese National Human Genome Center at Shanghai, Shanghai, China
  3. 3
    Shanghai Institute of Cardiovascular Diseases, and Department of Cardiology, Zhongshan Hospital, and Institutes of Biomedical Sciences, Fudan University, Shanghai, China
  1. Dr A Sun, Shanghai Institute of Cardiovascular Diseases, and Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai, China; ajsun{at}zshospital.net

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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 …

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