Brugada Syndrome Genes

Brugada syndrome genes

Brugada syndrome genes: Brugada syndrome is an inherited arrhythmogenic syndrome with life threatening ventricular arrhythmias, right bundle branch like pattern and ST segment elevation in right precordial leads. The first gene abnormality to be described was in SCN5A, the sodium channel gene. This has been designated as Brugada syndrome 1. BRGDA2 was described as defect in the GPD1L gene. The genetic defect in BRGDA3 is localized to the calcium channel gene CACNA1C. BRGDA4 has an abnormality in another calcium channel gene CACNB2. BRGDA5 has sodium channel gene defect in SCN1B. Potassium channel KCNE3 is defective in BRGDA6. Sodium channel SCN3B is defective in BRGDA7. HCN4 defect characterizes BRGDA8. Mutation in KCND3 has been designated as BRGDA9 [1]. This is list of designated Brugada syndrome 1 to 9 from the OMIM (Online Mendelian Inheritance in Man®) database on NCBI (National Center for Biotechnology Information).

The article by Ramon Brugada,  Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, Kui Hong [2] lists 23 genes: ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, and TRPM4.

References

  1. John R Giudicessi, Dan Ye, David J Tester, Lia Crotti, Alessandra Mugione, Vladislav V Nesterenko, Richard M Albertson, Charles Antzelevitch, Peter J Schwartz, Michael J Ackerman. Transient Outward Current (I(to)) Gain-Of-Function Mutations in the KCND3-encoded Kv4.3 Potassium Channel and Brugada Syndrome. Heart Rhythm. 2011 Jul;8(7):1024-32.
  2. Ramon Brugada,  Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, Kui Hong. Brugada Syndrome. Synonym: Sudden Unexpected Nocturnal Death Syndrome.  Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.