SCN5A Polymorphism Restores Trafficking of a Brugada Syndrome Mutation on a Separate Gene | Zendy

Steven Poelzing | Zendy; Cinzia Forleo | Zendy; Melissa Samodell | Zendy; Lynn A. Dudash | Zendy; Sandro Sorrentino | Zendy; Matteo Anaclerio | Zendy; Rossella Troccoli | Zendy; Massimo Iacoviello | Zendy; Roberta Romito | Zendy; Pietro Guida | Zendy; Mohamed Chahine | Zendy; M. V. Pitzalis | Zendy; Isabelle Deschênes | Zendy

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SCN5A Polymorphism Restores Trafficking of a Brugada Syndrome Mutation on a Separate Gene

Author(s) -

Steven Poelzing,

Cinzia Forleo,

Melissa Samodell,

Lynn A. Dudash,

Sandro Sorrentino,

Matteo Anaclerio,

Rossella Troccoli,

Massimo Iacoviello,

Roberta Romito,

Pietro Guida,

Mohamed Chahine,

M. V. Pitzalis,

Isabelle Deschênes

Publication year - 2006

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.105.601294

Subject(s) - brugada syndrome , sodium channel , penetrance , genetics , mutation , nav1.5 , missense mutation , medicine , sudden death , mutant , gene , biology , phenotype , sodium , chemistry , organic chemistry

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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