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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes.

Hector Barajas-MartinezMaya SmithDan HuRobert J GoodrowColleen PuleoCan HasdemirCharles AntzelevitchRyan PfeifferJacqueline A TreatJonathan M Cordeiro
Published in: Stem cells international (2020)
SCN9A, PXDNL, and FKBP1B variants appeared to alter spontaneous activity in hiPSC-CM. Only the proband carrying all 3 mutations displayed the ERS/BrS phenotype, whereas one nor two mutations alone did not produce the clinical phenotype. Our results suggest a polygenic cause of the BrS/ERS arrhythmic phenotype due to mutations in these three gene variants caused a very significant loss of function of I Na and I Ca and gain of function of I to.
Keyphrases
  • copy number
  • heart failure
  • genome wide
  • gene expression
  • left ventricular