Key result
Genetic screening in a Tunisian family with Brugada syndrome identified a novel SCN5A-Q1000K mutation and multiple non-coding variants, suggesting a complex multigenic etiology.
Why the study?
Routine genetic testing in Brugada syndrome typically sequences only protein-coding and flanking intronic regions of SCN5A, excluding the 5'UTR and 3'UTR.
Population
A Tunisian family diagnosed with BrS
Design
Family genetic screening study
Authors
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Single-family report warrants no change to Brugada syndrome screening; leaves open multigenic roles for non-coding variants.
Observational
The lack of genotype-phenotype concordance suggests Brugada syndrome is likely controlled by a combination of multiple genetic factors, including non-coding variants affecting miRNA binding, rather than a single variant.
Daimi et al. (2019) conducted an observational in Brugada syndrome. SCN5A and candidate gene variants was evaluated on Identification of genetic variants. Genetic screening in a Tunisian family with Brugada syndrome identified a novel SCN5A-Q1000K mutation and multiple non-coding variants, suggesting a complex multigenic etiology.
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