Johanna C Herkert, Judith M A Verhagen, Raquel Yotti, Alireza Haghighi, Dean G Phelan, Paul A James, Natasha J Brown, Chloe Stutterd, Ivan Macciocca, Kai'En Leong, Marian L C Bulthuis, Yolande van Bever, Marjon A van Slegtenhorst, Ludolf G Boven, Amy E Roberts, Radhika Agarwal, Jonathan Seidman, Neal K Lakdawala, Francisco Fernández-Avilés, Michael A Burke, Mary Ella Pierpont, Elizabeth Braunlin, Ahmet Okay Ḉağlayan, Daniela Q C M Barge-Schaapveld, Erwin Birnie, Lennie van Osch-Gevers, Irene M van Langen, Jan D H Jongbloed, Paul J Lockhart, David J Amor, Christine E Seidman, Ingrid M B H van de Laar
INTRODUCTION: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. METHODS AND RESULTS: We analyzed clinical manifestations of damaging biallelic ALPK3 variants in 19 pediatric patients, including nine previously published cases. Among these, 11 loss-of-function (LoF) variants, seven compound LoF and deleterious missense variants, and one homozygous deleterious missense variant were identified...
April 21, 2020: American Heart Journal