ReviewFrontiers in genetics2014
The FMR1 gene, infertility, and reproductive decision-making: a review.
Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- Across species identification of genes bridging neurological and reproductive functions in mammals.iScience · 2026Article
- Meiotic cohesin RAD21L shapes 3D genome structure and transcription in the male germline.Science advances · 2025Article
- Modeling the extension of ovarian function after therapeutic targeting of the primordial follicle reserve.Human reproduction update · 2025Review
- Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation ofInternational journal of molecular sciences · 2025Article
- Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.Cell death discovery · 2024Article
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
- Prevalence of theGenes · 2024Article
- X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.Molecular cytogenetics · 2024Article
- Diminished ovarian reserve causes adverse ART outcomes attributed to effects on oxygen metabolism function in cumulus cells.BMC genomics · 2023Article
- Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Frontiers in endocrinology · 2023Article
- Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023Review
- Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Candidate genes for infertility: an in-silico study based on cytogenetic analysis.BMC medical genomics · 2022Article
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- First custom next-generation sequencing infertility panel in Latin America: design and first results.JBRA assisted reproduction · 2020Article
- Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.Frontiers in genetics · 2018Review
- Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR.Journal of assisted reproduction and genetics · 2018Review
- Precision reproductive medicine: multigene panel testing for infertility risk assessment.Journal of assisted reproduction and genetics · 2017Review
- Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study).Fertility and sterility · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure (POF) in women who carry the premutation level of CGG repeats (55-199 CGGs). Research on the FMR1 gene has extended to other endpoints of relevance in the OB/GYN setting for women, including infertility and ovarian hormones. After reviewing the nomenclature changes that have occurred in recent years, this article reviews the evidence linking the length of the FMR1 repeat length to fertility and ovarian hormones (follicle stimulating hormone and anti-mullerian hormone as the primary methods to assess ovarian reserve in clinical settings). The literature is inconsistent on the association between the FMR1 trinucleotide repeat length and infertility. Elevated levels of follicle stimulating hormone have been found in women who carry the premutation; however the literature on the relationship between anti-mullerian hormone and the CGG repeat length are too disparate in design to make a summary statement. This article considers the implications of two transgenic mouse models (FXPM 130R and YAC90R) for theories on pathogenesis related to ovarian endpoints. Given the current screening/testing recommendations for reproductive age females and the variability of screening protocols in clinics, future research is recommended on pretest and posttest genetic counseling needs. Future research is also needed on ovarian health measurements across a range of CGG repeat lengths in order to interpret FMR1 test results in reproductive age women; the inconsistencies in the literature make it quite challenging to advise women on their risks related to FMR1 repeat length.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.