Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li‐Kroeger, Kim C. Worley, Lindsay Catherine Burrage, Lauren S. Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, , Hugo Jozef Bellen
The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.
eLife · Aug 27, 2025Peer-reviewedGenetic & Genomic Medicine