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Abstract Premature ovarian insufficiency (POI) is a complex reproductive disorder with a strong genetic component. The known POI causative genes currently account for only a small fraction of cases. In this study, we conducted whole-exome sequencing and identified a rare heterozygous missense variant in DNA helicase B (HELB) (c.349G>T, p.Asp117Tyr) in a Chinese family with POI and early menopause.
References 1, , , et al., “ESHRE Guideline: Management of Women With Premature Ovarian Insufficiency,” Human Reproduction 31, no. 5 (2016): 926–937, https://doi.org/10.1093/humrep/dew027. 2, , , et al., “Landscape of Pathogenic Mutations in Premature Ovarian Insufficiency,” Nature Medicine 29, no. 2 (2023): 483–492, https://doi.org/10.1038/s41591-022-02194-3. 3, , , and , “Basonuclin: A Novel Mammalian Maternal-Effect Gene,” Development 133, no.
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