A study published in Nature Communications has identified 192 rare de novo mutations (DNMs) related to male infertility. Among the 192 DNMs, 145 DNMs are protein-altering mutations, and 29 of them can potentially cause male infertility. DNMs are newly formed mutations that could arise from mutations in a germ cell (egg or sperm) of one of the parents or a mutation in the fertilized egg itself during early embryogenesis. The researchers performed whole-exome sequencing of the samples obtained from 185 male infertility patients with oligozoospermia and azoospermia and their parents.
They found 191 autosomal mutations and one mutation on chromosome X. So far, only four autosomal genes associated with male infertility have been identified. The newly identified 145 protein-altering mutations occur in genes that are also found to be involved in autosomal dominant male infertility . The…
