Human Reproduction • Vol 38 • No Supplement_1
P-740 Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI
June 2023 • A Cardona Barberán, Annekatrien Boel, Cora Colenbier, Emma Van der Velden, Dominic Stoop, Paul Coucke, Frauke Vanden Meerschaut, Björn Heindryckx
Abstract Study question What is the frequency of PLCZ1, ACTL7A and ACTL9 variants in male patients suffering from fertilization failure (FF) after ICSI? Summary answer Male patients with FF after ICSI exhibit variants in PLCZ1 (27,3%), ACTL7A (13,6%) and ACTL9 (4,5%). Some patients present PLCZ1 variants combined with ACTL7A/ACTL9 variants. What is known already FF after ICSI has been often attributed to phospholipase C zeta (PLCζ) deficiency, and consequently to insufficient calcium release, necessary for fertili…