Further evidence from supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants.

Male infertility is a major concern affecting reproductive health. Biallelic deleterious variants of most DNAH gene family members have been linked to male infertility, with intracytoplasmic sperm injection (ICSI) being an efficacious way to achieve offspring. However, the association between and male infertility is still limited. Here, we identified one homozygous variant and two compound heterozygous variants in from three infertile Chinese men. Semen analysis revealed severe asthenozoospermia, abnormal morphology, and structure of sperm flagella. Furthermore, the knock-out mouse revealed severe spermatogenesis failure and validated the same male infertility phenotype. Favorable fertility outcomes were achieved through ICSI in three human individuals and knock-out mice. Collectively, our study indicated that biallelic variants of can induce male infertility in both human beings and mice. Notably, evidence from enhanced that ICSI was an optimal intervention to achieve favorable fertility outcomes for infertile males with DNAH gene family variants.