Mutations of the gene <i>FNIP1</i> associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome
Tim Niehues, Tuba Turul Özgür, Marie S Bickes, Rebekka Waldmann, Jennifer Schöning, Jan Hinrich Bräsen, Christian Hagel, Matthias Ballmaier, Jan‐Henning Klusmann, Alexandra Niedermayer, Ulrich Pannicke, Anselm Enders, Gregor Dückers, Kathrin Siepermann, Julyia Hempel, Klaus Schwarz, Dorothee Viemann
Abstract
AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.