1. Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
- Author
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Giuseppe Ciconte, Emanuela T Locati, Luigi Giannelli, Nicoletta Resta, Luigi Anastasia, Valeria Borrelli, Michelle M. Monasky, Gabriele Vicedomini, Andrea Ghiroldi, Chiara Di Resta, Rosanna Bagnulo, Sara Benedetti, Maurizio Ferrari, Carlo Pappone, Emanuele Micaglio, Micaglio, E, Monasky, M M, Resta, N, Bagnulo, R, Ciconte, G, Gianelli, L, Locati, E T, Vicedomini, G, Borrelli, V, Ghiroldi, A, Anastasia, L, Benedetti, S, Di Resta, C, Ferrari, M, and Pappone, C
- Subjects
0301 basic medicine ,Male ,Genetic testing ,family ,Case Report ,030204 cardiovascular system & hematology ,Sudden cardiac death ,NAV1.5 Voltage-Gated Sodium Channel ,lcsh:Chemistry ,0302 clinical medicine ,Channelopathy ,lcsh:QH301-705.5 ,Spectroscopy ,SCN5A ,Brugada syndrome ,Genetics ,medicine.diagnostic_test ,Sodium channel ,scn5a ,General Medicine ,Middle Aged ,Computer Science Applications ,Pedigree ,Codon, Nonsense ,Mutation (genetic algorithm) ,Female ,Arrhythmia ,point-nonsense mutation ,Human ,sodium channel ,Adult ,Nonsense mutation ,Biology ,arrhythmia ,Catalysis ,sudden cardiac death ,genetic testing ,Inorganic Chemistry ,03 medical and health sciences ,channelopathy ,medicine ,Family ,Functional studies ,Physical and Theoretical Chemistry ,Molecular Biology ,Gene ,Organic Chemistry ,fungi ,Point-nonsense mutation ,medicine.disease ,030104 developmental biology ,lcsh:Biology (General) ,lcsh:QD1-999 ,Mutation ,mutation ,brugada syndrome - Abstract
Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.
- Published
- 2019