ArticleJournal of ovarian research2019
A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.
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 31 papers.
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31 citing papers in PubMed.
- Hydroxytyrosol Enhances the Nrf2/HO-1 Signalling Pathway to Inhibit Oxidative Stress and Apoptosis and Improve Premature Ovarian Insufficiency In Vitro and In Vivo.International journal of molecular sciences · 2026Article
- A novel heterozygous splicing variant in theFrontiers in cell and developmental biology · 2026Article
- Translational repression by 4E-T is crucial to maintain the prophase-I arrest in vertebrate oocytes.Nature communications · 2025Article
- Condensate-forming eIF4ET ensures adequate levels of meiotic proteins to support oocyte storage.Life science alliance · 2025Article
- The risk factors, pathogenesis and treatment of premature ovarian insufficiency.Journal of ovarian research · 2025Review
- Diverse roles of stress-responsive RNP granules in oogenesis and infertility.Biology of reproduction · 2025Review
- Association of LHCGR rs2293275 genotype with ovarian aging in Chinese women: a multicenter population-based study.Reproductive biology and endocrinology : RB&E · 2025Observational
- Analysis of single-cell RNA sequencing in human oocytes with diminished ovarian reserve uncovers mitochondrial dysregulation and translation deficiency.Reproductive biology and endocrinology : RB&E · 2024Article
- Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.International journal of molecular sciences · 2024Article
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- Effect of moxibustion on expression profile of miRNAs in Tripterygium glycoside-induced decreased ovarian reserve.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2024Article
- Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Oocyte-specific deletion of eukaryotic translation initiation factor 5 causes apoptosis of mouse oocytes within the early-growing follicles by mitochondrial fission defect-reactive oxygen species-DNA damage.Clinical and translational medicine · 2024Article
- Cellular atlas of the human ovary using morphologically guided spatial transcriptomics and single-cell sequencing.Science advances · 2024Article
- A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.Molecular genetics & genomic medicine · 2024Article
- eIF4E1b is a non-canonical eIF4E protecting maternal dormant mRNAs.EMBO reports · 2024Article
- A Comprehensive Genomic Analysis of Chinese Indigenous Ningxiang Pigs: Genomic Breed Compositions, Runs of Homozygosity, and Beyond.International journal of molecular sciences · 2023Article
- Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women.Frontiers in genetics · 2023Article
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Abstract
backgroundTo dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family.
methodsWhole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in the proband and her mother. In silico algorithms were used to analyze the mutational effect of the variant. PSIPRED (PSI-blast based secondary structure PREDiction) was used for predicting mutated protein secondary structures.
resultsUsing whole-exome sequencing, we found that the proband carries the mutation c.2525A > C;p.Q842P in EIF4ENIF, a POI-related gene. Through Sanger sequencing, we found that the proband's mother also carries the same mutation. Online bioinformatics analysis suggests that the mutation is a pathogenic mutation. Secondary structural biology prediction analysis indicates that the mutation either causes the destruction of the α-helical structure around the mutation site or reduces the α-helix.
conclusionsThis mutation is the second novel mutation of EIF4ENIF1 that has been identified in POI patients. This study thus provides a theoretical basis for POI genetics and POI clinical genetic counseling.
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