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A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia by Bi-Hua Tan, Pedro.

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Presentation on theme: "A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia by Bi-Hua Tan, Pedro."— Presentation transcript:

1 A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia by Bi-Hua Tan, Pedro Iturralde-Torres, Argelia Medeiros-Domingo, Santiago Nava, David J. Tester, Carmen R. Valdivia, Teresa Tusié-Luna, Michael J. Ackerman, and Jonathan C. Makielski Cardiovasc Res Volume 76(3):409-417 February 1, 2008 Copyright © 2007, European Society of Cardiology

2 Electrocardiographic phenotypes. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology

3 (A) Topological diagram of SCN5A showing a 4 base pair deletion (TCTG) after codon at no. 1821. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology

4 Comparing the peak or late current of mutant L1821fs/10 and WT in the most common splice variant SCN5A-Q1077del background. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology

5 Voltage dependence of time to peak (A), fast time constant (B), slow time constant (C), and fast fractional amplitude of current decay (D). Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology

6 Voltage-dependent gating for L1821fs/10 and WT in the Q1077del splice variant background. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology

7 Confocal images of HEK-293 cells expressing the L1821fs/10 (top panel) and WT (bottom panel) with FLAG-tagged sodium channels. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology


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