The genetic architecture of Plakophilin 2 cardiomyopathy.
Annika M DriesAnna KirillovaChloe M ReuterJohn GarciaHana ZoukMegan HawleyBrittney MurrayCrystal TichnellKalliopi PilichouAlexandros ProtonotariosArgelia Medeiros-DomingoMelissa A KellyAris BarasJodie InglesChristopher SemsarianBarbara BauceRudy CeleghinCristina BassoJan D H JongbloedRobert L NussbaumBirgit FunkeMarina CerroneLuisa MestroniMatthew R G TaylorGianfranco SinagraMarco MerloArdan M SagunerPerry M ElliottPetros SyrrisJ Peter van Tintelennull nullCynthia A JamesChristopher M HaggertyVictoria N ParikhPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This multicohort evaluation of the genetic architecture of PKP2 demonstrates the specificity of PKP2 truncating variants for ARVC within the ACM disease spectrum. We identify the PKP2 C-terminus as a potential functional domain and find that truncating variants likely cause disease irrespective of transcript position.