AI Article Synopsis
- - Brugada syndrome (BrS) is characterized by specific changes in the heart's electrical activity and poses a significant risk of sudden cardiac death, with genetics behind the syndrome being unclear in more than half of cases.
- - Variants in a particular gene are the most frequently identified genetic cause, accounting for about 33% of BrS cases, highlighting the need for more research models to understand the syndrome better.
- - The study introduces a new genetic variant (NM_198056.2:c.1111C>T) associated with BrS found in a large family, suggesting it may have harmful effects, necessitating further functional studies to explore its impact.
Article Abstract
Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888117 | PMC |
| http://dx.doi.org/10.3390/ijms20225522 | DOI Listing |
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