PubMed 25253298

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1 , Nav1.5

Title: SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Authors: Maria Teresa Ricci, Silvia Menegon, Simona Vatrano, Giorgia Mandrile, Natascia Cerrato, Paula Carvalho, Mario De Marchi, Fiorenzo Gaita, Carla Giustetto, Daniela Francesca Giachino

Journal, date & volume: Sci Rep, 2014 , 4, 6470

PubMed link:

Brugada syndrome is characterised by a typical ECG with ST segment elevation in the right precordial leads. Individuals with this condition are susceptible to ventricular arrhythmias and sudden cardiac death. The principal gene responsible for this syndrome is SCN5A, which encodes the α-subunit of the Nav1.5 voltage-gated sodium channel. Mutations involving other genes have been increasingly reported, but their contribution to Brugada syndrome has been poorly investigated. Here we focused on the SCN1B gene, which encodes the β1-subunit of the voltage-gated sodium channel and its soluble β1b isoform. SCN1B mutations have been associated with Brugada syndrome as well as with other cardiac arrhythmias and familial epilepsy. In this study, we have analysed SCN1B exons (including the alternatively-spliced exon 3A) and 3'UTR in 145 unrelated SCN5A-negative patients from a single centre. We took special care to report all identified variants (including polymorphisms), following the current nomenclature guidelines and considering both isoforms. We found two known and two novel (and likely deleterious) SCN1B variants. We also found two novel changes with low evidence of pathogenicity. Our findings contribute more evidence regarding the occurrence of SCN1B variants in Brugada syndrome, albeit with a low prevalence, which is in agreement with previous reports.