open access

Vol 21, No 2 (2014)
Original articles
Published online: 2014-04-15
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Brugada syndrome and p.E61X_RANGRF

Oscar Campuzano, Paola Berne, Elisabeth Selga, Catarina Allegue, Anna Iglesias, Josep Brugada, Ramon Brugada
DOI: 10.5603/CJ.a2013.0125
·
Cardiol J 2014;21(2):121-127.

open access

Vol 21, No 2 (2014)
Original articles
Published online: 2014-04-15

Abstract

Background: Brugada syndrome is an inherited cardiac condition transmitted with an autosomal dominant pattern which can lead to sudden cardiac death from malignant ventricular arrhythmias. The RANGRF gene has recently been proposed to be associated with Brugada syndrome. This gene encodes the MOG1 protein, a co-factor required for the full functioning of the cardiac sodium channel Nav1.5. The nonsense p.E61X genetic variation in the RANGRF gene has been postulated as responsible for Brugada syndrome although no clear association has been established.

Methods: We clinically and genetically evaluated a Spanish family diagnosed with Brugada syndrome. A comprehensive genetic analysis of all genes to date responsible for Brugada syndrome was performed in the index case.

Results: The index case was clinically diagnosed with Brugada syndrome after flecainide test. We identified a nonsense variation (p.E61X) in the index case and in other five family members. All of them showed a normal electrocardiogram in basal conditions. Flecainide test unmasked a type 1 Brugada syndrome electrocardiogram only in two of the relatives.

Conclusions: We suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome. Further studies must be performed to elucidate the potential pathogenic role of p.E61X_RANGRF in Brugada Syndrome.

Abstract

Background: Brugada syndrome is an inherited cardiac condition transmitted with an autosomal dominant pattern which can lead to sudden cardiac death from malignant ventricular arrhythmias. The RANGRF gene has recently been proposed to be associated with Brugada syndrome. This gene encodes the MOG1 protein, a co-factor required for the full functioning of the cardiac sodium channel Nav1.5. The nonsense p.E61X genetic variation in the RANGRF gene has been postulated as responsible for Brugada syndrome although no clear association has been established.

Methods: We clinically and genetically evaluated a Spanish family diagnosed with Brugada syndrome. A comprehensive genetic analysis of all genes to date responsible for Brugada syndrome was performed in the index case.

Results: The index case was clinically diagnosed with Brugada syndrome after flecainide test. We identified a nonsense variation (p.E61X) in the index case and in other five family members. All of them showed a normal electrocardiogram in basal conditions. Flecainide test unmasked a type 1 Brugada syndrome electrocardiogram only in two of the relatives.

Conclusions: We suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome. Further studies must be performed to elucidate the potential pathogenic role of p.E61X_RANGRF in Brugada Syndrome.

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Keywords

sudden cardiac death, Brugada syndrome, RANGRF gene, nonsense mutation

About this article
Title

Brugada syndrome and p.E61X_RANGRF

Journal

Cardiology Journal

Issue

Vol 21, No 2 (2014)

Pages

121-127

Published online

2014-04-15

DOI

10.5603/CJ.a2013.0125

Bibliographic record

Cardiol J 2014;21(2):121-127.

Keywords

sudden cardiac death
Brugada syndrome
RANGRF gene
nonsense mutation

Authors

Oscar Campuzano
Paola Berne
Elisabeth Selga
Catarina Allegue
Anna Iglesias
Josep Brugada
Ramon Brugada

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