New research appearing in Nature Medicine this week has identified pathogenic gene variants associated with premature ovarian insufficiency (POI), shedding new light on the genetics of this major cause of female infertility. POI, characterized by the cessation of ovarian function, affects nearly 4 percent of women under the age of 40. It is highly heterogeneous and can be caused by genetic defects, autoimmune disease, infections, or other factors. Yet a large number of cases are idiopathic, with multiple lines of evidence supporting a genetic basis for pathogenesis, making it important to understand the condition's molecular basis. To that end, a team led by Shandong University researchers performed whole-exome sequencing in 1,030 patients with POI, uncovering hundreds of pathogenic and likely pathogenic variants in nearly a quarter of the patients studied, as well as offering insights into the genetic landscape of the disease. The findings, the scientists write, could have the potential to improve the utility of diagnostic genetic screenings for POI.
Study Reveals New Details About Genetics of Major Cause of Female Infertility
Feb 03, 2023