PLCZ1 gene mutation leads to fertilization disorder: a case report

Sperm-specific phospholipase C-zeta (PLCζ) is a sperm-derived oocyte activating factor, which can induce Ca2+ oscillation and initiate oocyte activation. The mutation of this gene will affect oocyte activation and lead to fertilization failure(FF). In this paper, we report a fertilization disorder caused by a PLCZ1 gene mutation. The patient's peripheral blood was collected for whole exon detection. The results showed that the patient had heterozygous mutations in PLCZ1 gene c.1733 C > T (p.M578L) and c.471 G > C (p.M157I), and the male's brother also carried heterozygous mutations in the gene. Finally, the patient obtained clinical pregnancy by in vitro fertilization with donor sperm. At the same time, the related literature on PLCZ1 gene mutation at home and abroad was reviewed and analyzed to improve the clinicians' understanding of the PLCZ1 gene and fertilization disorders.