Mengqi Ma, Yiming Zheng, Shenzhao Lu, Xueyang Pan, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, Jill A Rosenfeld, David Li-Kroeger, Debdeep Dutta, Shinya Yamamoto, Michael F Wangler, Ian A Glass, Sam Strohbehn, Elizabeth Blue, Paolo Prontera, Seema R Lalani, Hugo J Bellen
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of PLCG1 are observed in multiple cancers, but only one germline variant has been reported. Here we describe three unrelated individuals with de novo heterozygous missense variants in PLCG1 (p.Asp1019Gly, p.His380Arg, and p...
January 9, 2024: medRxiv