Proteomics Uncovers Cryptic JPH2 Loss in Paediatric Dilated Cardiomyopathy
Carlos C. Smith-Díaz, Valerii Iaprintsev, Hannah Huckstep, Ivan Macciocca, Adam T. Piers, Natasha Henden, Samantha J. Bryen, Natalie P. Stewart, Alexandra Butters, Amy Baker, Laura Catto, Leah F. Kemp, Ingrid King, Lina H.H. Le, David A. Elliott, , Jodie Ingles
This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.
medRxiv · Jun 17, 2026 · PreprintGenetic & Genomic Medicine