A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome. Issue 7 (29th April 2013)

• Record Type: Journal Article
• Authors: Riuró, Helena; Beltran‐Alvarez, Pedro; Tarradas, Anna; Selga, Elisabet; Campuzano, Oscar; Vergés, Marcel; Pagans, Sara; Iglesias, Anna; Brugada, Josep; Brugada, Pedro; Vázquez, Francisco M.; Pérez, Guillermo J.; Scornik, Fabiana S.; Brugada, Ramon
• Is Part Of: Human mutation. Volume 34:Issue 7(2013:Jul.)
• Page Start: 961
• Page End: 966
• Publication Date: 2013-04-29
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22328
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22328-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Brugada Syndrome (BrS) is a familial disease associated mainly to a loss‐of‐function of the cardiac sodium channel. In this work, we identified a novel missense mutation (p.Asp211Gly) in the sodium β2 subunit encoded by <italic>SCN2B</italic>, in a woman diagnosed with BrS. Our electrophysiological analysis showed that the β2D211G provoked a reduction in INa density by decreasing Nav1.5 cell surface expression. These results strongly suggest that <italic>SCN2B</italic> is a new candidate gene for BrS. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg224gz2vq" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>