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Novel p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths. | LitMetric

AI Article Synopsis

  • - Genetic testing for Brugada syndrome (BrS) is currently limited in clinical management due to a lack of understanding of variant effects, and family history of sudden death is often not useful for assessing arrhythmic risk.
  • - This study involved a proband with a history of cardiac arrest, where a novel variant was identified and further investigations were conducted on living family members to assess its impact.
  • - Findings revealed a specific genetic variant associated with severe BrS and multiple deaths, underscoring the potential benefit of genetic testing and family history in diagnosing and stratifying risk for certain patients.

Article Abstract

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the novel variant . In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125150PMC
http://dx.doi.org/10.3390/ijms22094700DOI Listing

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