Genetic mutations identified as potential causes of male and female infertility

New genetic research conducted by scientists in China has identified specific gene mutations that may explain different phenotypes of infertility in both men and women.

In male patients, researchers identified variants in the FBXO43 gene, which regulates meiosis. The study found that the severity of these mutations influences whether sperm production is merely impaired or completely arrested. One patient with missense variants produced sperm with severe morphological and motility defects, while another with nonsense and frameshift variants experienced nonobstructive azoospermia, where sperm production is absent.

In female patients, researchers identified 14 variants in the zona pellucida (ZP) proteins, which form the egg's protective outer layer. These variants are linked to fertilization failure and implantation challenges during assisted reproductive technologies like in vitro fertilization (IVF). The findings suggest that genetic screening of these specific proteins could help guide personalized reproductive strategies and improve outcomes for patients experiencing unexplained treatment failure.