Recently, a homozygous splice variant (c.201 + 1G > T) (64) and a homozygous frameshift variant (c.231_232del; p.(Cys78Phefs*21)) (57, 64) in ZSWIM7 itself have been shown to be associated with human male infertility in 4 unrelated patients (Fig. 1C). Here, ZSWIM7 is linked to male infertility.