{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent investigations have revealed that CCDC201 is a human-specific gene, identified only in 2022, which is highly expressed in oocytes and plays a crucial role in female reproductive health."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "The gene’s function was elucidated through the study of a low-frequency stop‐gain variant (rs117316434, p.(Arg162Ter)); women homozygous for this loss‐of-function mutation experience menopause approximately 9 years earlier than noncarriers and nearly half develop primary ovarian insufficiency."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "These dramatic effects on the timing of menopause are further reflected in reproductive outcomes, with homozygous women having fewer children and an earlier age at last childbirth, highlighting the potential need for targeted reproductive counseling and treatment for early menopause symptoms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Asmundur Oddsson, Valgerdur Steinthorsdottir, Gudjon R Oskarsson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41588-024-01885-6"}], "href": "https://doi.org/10.1038/s41588-024-01885-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39192094"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39192094"}]}]}]}