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Dolz-Gaitón P, Núñez M, Núñez L, Barana A, Amorós I, Matamoros M, Pérez-Hernández M, González de la Fuente M, Alvarez-López M, Macías-Ruiz R, Tercedor-Sánchez L, Jiménez-Jáimez J, Delpón E, Caballero R, Tamargo J

Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

PLoS ONE. 2013;8(11):e81493, PMID: 24363796

We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and showed a Brugada syndrome with an incomplete and variable expression. The mutation (p.D1816VfsX7) resulted in a severe truncation (201 residues) of the Nav1.5 C-terminus.

MULTIDISCIPLINARY SCIENCES

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