SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene by Poelzing Steven, Forleo Cinzia, Samodell Melissa, Dudash Lynn, Sorrentino Sandro, Anaclerio Matteo, Troccoli Rossella, Iacoviello Massimo, Romito Roberta, Guida Pietro, Chahine Mohamed, Pitzalis Mariavittoria, DeschĂȘnes Isabelle in Circulation (2006). PubMed

Abstract

Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying the R282H-SCN5A mutation, an asymptomatic individual had a common H558R-SCN5A polymorphism and the mutation on separate chromosomes. Therefore, we hypothesized that the polymorphism could rescue the mutation.

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