ArticleJournal of ovarian research2019
A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
Article in Journal of ovarian research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
- A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation.Human reproduction (Oxford, England) · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.Clinical and experimental otorhinolaryngology · 2025Article
- The risk factors, pathogenesis and treatment of premature ovarian insufficiency.Journal of ovarian research · 2025Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.The Journal of clinical investigation · 2024Article
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- The crucial role of HFM1 in regulating FUS ubiquitination and localization for oocyte meiosis prophase I progression in mice.Biological research · 2024Article
- TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.Journal of ovarian research · 2024Article
- SRSF1 is essential for primary follicle development by regulating granulosa cell survival via mRNA alternative splicing.Cellular and molecular life sciences : CMLS · 2023Article
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Female Oncofertility: Current Understandings, Therapeutic Approaches, Controversies, and Future Perspectives.Journal of clinical medicine · 2021Review
- Genomic Consideration in Chemotherapy-Induced Ovarian Damage and Fertility Preservation.Genes · 2021Review
- Genetic determination of the ovarian reserve: a literature review.Journal of ovarian research · 2021Review
- Onco-fertility and personalized testing for potential for loss of ovarian reserve in patients undergoing chemotherapy: proposed next steps for development of genetic testing to predict changes in ovarian reserve.Fertility research and practice · 2021Review
- Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.Genes · 2021Article
- Meiosis interrupted: the genetics of female infertility via meiotic failure.Reproduction (Cambridge, England) · 2021Review
- Premature Ovarian Insufficiency: Past, Present, and Future.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
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Abstract
backgroundPremature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged < 40 years and is highly heterogeneous in etiology. The genetic etiology of this disorder remains unknown in most women with POI.
methodsWhole-exome sequencing (WES) was used to analyze genetic factors within a Chinese POI pedigree. Bioinformatic analysis was applied to identify the potential genetic cause, and Sanger sequencing confirmed the existence of a mutation within the pedigree. A minigene assay was performed to validate the effect of the mutation on pre-mRNA splicing.
resultsA novel heterozygous missense mutation in HFM1 (c.3470G > A) associated with POI was identified by whole-exome sequencing. This mutation was heterozygous in the affected family members and was absent in the unaffected family members. In silico analysis predicted that the mutation was potentially pathogenic. Bioinformatic splice prediction tools revealed that the mutation was very likely to have a strong impact on splice site function. Results of the minigene assay revealed that the mutation changed the mRNA splicing repertory.
conclusionsThe missense mutation of the HFM1 gene (c.3470G > A) may be a cause of POI. The mutation altered mRNA splicing in cells. This study can provide geneticists with deeper insight into the pathogenesis of POI and aid clinicians in making early diagnoses in affected women.
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