ArticleThe Journal of clinical endocrinology and metabolism2013
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 69 citations in OpenAlex.
- Chromosomal and genetic causes of primary ovarian insufficiency in the Utah population.Journal of the Endocrine Society · 2026Article
- Cracking the fertility code: a comprehensive review of biomarkers and functional measures.Open biology · 2026Review
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- 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
- Diverse roles of stress-responsive RNP granules in oogenesis and infertility.Biology of reproduction · 2025Review
- The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.PLoS genetics · 2025Article
- Article
- Heterozygous Eif4nif1 Stop-Gain Mice Replicate the Primary Ovarian Insufficiency Phenotype in Women.Endocrinology · 2025Article
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- Exosomal miRNA Changes Associated with Restoration to Sinus Rhythm in Atrial Fibrillation Patients.International journal of molecular sciences · 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
- Family size for women with primary ovarian insufficiency and their relatives.Human reproduction (Oxford, England) · 2023Article
- DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.The Journal of clinical endocrinology and metabolism · 2023Observational
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Primary ovarian insufficiency has strong familiality: results of a multigenerational genealogical study.Fertility and sterility · 2023Article
- Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2022Observational
- Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
contextPrimary ovarian insufficiency (POI), or premature ovarian failure, results from ovarian follicle depletion with a consequent elevation of FSH levels before age 40 years. We identified a family in which 9 women in 3 consecutive generations developed menopause at approximately age 30 years. We hypothesized a genetic cause with a dominant mode of inheritance.
designThis was a family-based genetic study and a replicate group of women with POI.
settingThe study was conducted at an academic medical center. PATIENTS: Seven affected women and an obligate carrier and 7 unaffected family members were genotyped. The genes of interest were also sequenced in 38 unrelated women with POI.
interventionThe DNA from 7 family members was subjected to whole-exome sequencing. The genotypes of interest were confirmed and genotypes of additional family members and unrelated women with POI were determined using Sanger sequencing.
main outcome measureA high-impact, deleterious variant that segregated appropriately with POI in the family was required.
resultsA heterozygous stop codon (Ser429X) was identified in the eukaryotic translation initiation factor 4E nuclear import factor 1 (eIF4ENIF1) in the proband and all affected women but not in the unaffected family members. The chance that such a high-impact, deleterious variant would segregate appropriately among the affected and unaffected relatives by chance is very low (P < .05). There were no additional mutations identified in eIF4ENIF1 or eIF4E in 38 unrelated women with POI.
conclusionData demonstrate a new gene associated with dominantly inherited POI. These results highlight the importance of translation initiation factors and their regulators in ovarian function.
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