TY - JOUR
T1 - Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome
AU - Micaglio, Emanuele
AU - Monasky, Michelle M.
AU - Resta, Nicoletta
AU - Bagnulo, Rosanna
AU - Ciconte, Giuseppe
AU - Gianelli, Luigi
AU - Locati, Emanuela T.
AU - Vicedomini, Gabriele
AU - Borrelli, Valeria
AU - Ghiroldi, Andrea
AU - Anastasia, Luigi
AU - Benedetti, Sara
AU - Di Resta, Chiara
AU - Ferrari, Maurizio
AU - Pappone, Carlo
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
KW - Arrhythmia
KW - Brugada syndrome
KW - Channelopathy
KW - Family
KW - Genetic testing
KW - Mutation
KW - Point-nonsense mutation
KW - SCN5A
KW - Sodium channel
KW - Sudden cardiac death
UR - http://www.scopus.com/inward/record.url?scp=85072986372&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85072986372&partnerID=8YFLogxK
U2 - 10.3390/ijms20194920
DO - 10.3390/ijms20194920
M3 - Article
C2 - 31590245
AN - SCOPUS:85072986372
VL - 20
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
SN - 1661-6596
IS - 19
M1 - 4920
ER -