ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Prevalence of theGenes · 2024Article
- FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.Reproductive biology and endocrinology : RB&E · 2024Article
- Review
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- Genetic determination of the ovarian reserve: a literature review.Journal of ovarian research · 2021Review
- Characterization ofFrontiers in genetics · 2021Article
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?Journal of assisted reproduction and genetics · 2020Article
- Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers?Journal of assisted reproduction and genetics · 2020Article
- Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.Brain and cognition · 2020Article
- Development and Validation of a Mathematical Model to Predict the Complexity ofFrontiers in genetics · 2020Article
- Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion.Journal of assisted reproduction and genetics · 2019Article
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.Frontiers in genetics · 2018Article
- Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.Frontiers in genetics · 2018Review
- Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at theFrontiers in molecular neuroscience · 2018Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFragile X premutation (PM) carriers may experience difficulties conceiving a child probably due to fragile X-associated diminished ovarian reserve (FXDOR). We investigated which subgroups of carriers with a PM are at higher risk of FXDOR, and whether the number of AGG interruptions within the repeat sequence further ameliorates the risk.
methodsWe compared markers of ovarian reserve, including anti-Müllerian hormone, antral follicle count, and number of oocytes retrieved between different subgroups of patients with a PM.
resultsWe found that carriers with midrange repeats size (70-90 CGG) demonstrate significantly lower ovarian reserve. Additionally, the number of AGG interruptions directly correlated with parameters of ovarian reserve. Patients with longer uninterrupted CGG repeats post-AGG interruptions had the lowest ovarian reserve.
conclusionThis study connects AGG interruptions and certain CGG repeat length to reduced ovarian reserve in carriers with a PM. A possible explanation for our findings is the proposed gonadotoxicity of the FMR1 transcripts. Reduction of AGG interruptions could increase the likelihood that secondary RNA structures in the FMR1 messenger RNA are formed, which could cause cell dysfunction within the ovaries. These findings may provide women with guidance regarding their fertility potential and accordingly assist with their family planning.
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