A de novo C-terminal truncation mutation in NUP205 as a key factor in premature ovarian insufficiency

The authors investigate whether a novel de novo truncation mutation in nucleoporin 205 (NUP205) contributes to the pathogenesis of premature ovarian insufficiency (POI). They find that NUP205 is crucial for ovarian development, with mutations leading to structural defects in the nuclear pore complex and impaired fertility in both human cell lines and a zebrafish model. This study highlights NUP205 as a significant genetic factor in POI, expanding the understanding of nucleoporin-related reproductive disorders.