ArticleJournal of assisted reproduction and genetics2020
Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2026Pooled it
- Meiotic gene expression ofInternational journal of reproductive biomedicine · 2026Article
- A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Diminished Ovarian Reserve: A Narrative Review of Etiologies and Possible Therapeutic Approaches.Journal of menopausal medicine · 2025Review
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023Review
- Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.Journal of assisted reproduction and genetics · 2022Article
- Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.Journal of ovarian research · 2022Article
- Genetic determination of the ovarian reserve: a literature review.Journal of ovarian research · 2021Review
- Strategies to Identify Genetic Variants Causing Infertility.Trends in molecular medicine · 2021Review
- Forecasting early onset diminished ovarian reserve for young reproductive age women.Journal of assisted reproduction and genetics · 2021Article
- Article
- Ovarian Aging: Molecular Mechanisms and Medical Management.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR).
methodsFourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected POI candidate genes. The identified genes were subjected to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment and protein-protein interaction (PPI) network analyses to uncover key genes and pathways.
resultsAmong the 20 patients, 79 heterozygous variants were detected in 49 genes, which were classified as "likely pathogenic" or "variants of uncertain significance" according to the guidelines of the American College of Medical Genetics and Genomics. Most patients (17/20) carried two or more variants. Monoacylglycerol O-acyltransferase 1 mutations were found in six patients, and cytochrome P450 family 26 subfamily B member 1 and Bardet-Biedl syndrome 9 mutations were each found in four patients. Some variants were shared between DOR and POI. Enrichment analyses showed that the identified genes participate in key ovarian processes, such as follicular development, gonadal development, meiosis, Fanconi anemia, homologous recombination, and transforming growth factor β signaling. A PPI network revealed interactions between these proteins.
conclusionPremature ovarian function decline may be polygenic, and overlap exists between the genetic backgrounds of DOR and POI. WES and in silico analyses may be a useful clinical tool for etiological diagnosis and risk prediction for high-risk women in the future.
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Registered trials
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