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Identification of pathogenic DNA variants in premature ovarian insufficiency

Nature Medicine volume 29, pages 315–316 (2023)Cite this article

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The largest whole-exome sequencing study of individuals with premature ovarian insufficiency (POI) so far identifies 20 new disease-associated genes, yields an overall genetic contribution to POI of 23.5%, and provides detailed characterization of the genetic landscape of this disorder.

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Fig. 1: Landscape of pathogenic or probably pathogenic gene variants in patients with POI.

References

  1. Golezar, S. et al. The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis. Climacteric 22, 403–411 (2019). This paper estimates the global prevalence of POI.

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This is a summary of: Ke, H. et al. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat. Med. https://doi.org/10.1038/s41591-022-02194-3 (2023).

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Identification of pathogenic DNA variants in premature ovarian insufficiency. Nat Med 29, 315–316 (2023). https://doi.org/10.1038/s41591-022-02196-1

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