Here, we identified bi-allelic PLCZ1 mutations in four infertile males, including three novel variants (c.T1466G, p.I489S), (c.1208_1213del, p.403_404del) and (c.C1607T, p.W536X), which expanded the pathogenic mutational spectrum of PLCZ1 gene. The gene discussed is PLCZ1; the disease is Infertility.