ArticleMolecular diagnosis & therapy2018
Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.
Article in Molecular diagnosis & therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes.Orphanet journal of rare diseases · 2025Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
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- Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency.Journal of genetics · 2020Article
- Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.BMC medical genetics · 2018Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundFragile X syndrome is caused by CGG repeat expansion mutation in the FMR1 gene. Normal alleles have 5-44 CGG repeats with AGG interruptions. The expanded gray zone (GZ) (45-54 repeats) and premutation (PM) (55-200 repeats) alleles are often uninterrupted and are unstably inherited in subsequent generations. The prevalence of PM and GZ carriers is high in the female population, at 1/66 and 1/113, respectively, and PM is associated with fertility problems in 20% of cases.
objectiveOur objective was to molecularly characterize CGG repeats and AGG interruption sequences in the FMR1 gene in women of reproductive age and in women with premature ovarian insufficiency (POI). MATERIALS AND
methodsWe conducted molecular analysis of the FMR1 gene from 300 women of reproductive age and 140 women with POI using triplet primed-polymerase chain reaction. This enabled us to identify carriers and to document CGG repeat size and the AGG interruption pattern.
resultsIn women of reproductive age, 1.7% were GZ carriers and 0.3% were PM carriers; in women with POI, 3.6% were GZ carriers and 2.14% were PM carriers. The frequency of GZ and PM carriers did not significantly differ between the cohorts (Fisher's exact test: p < 2.23 for GZ vs. control and p < 0.101 for PM vs. control). Carriers received genetic counselling; family screening identified an additional seven carriers.
conclusionWe documented preliminary data on the prevalence of GZ and PM carriers among the studied cohorts. The identification of PM carriers among women with POI serves a dual purpose of recognizing a cause for ovarian dysfunction and enabling genetic counselling, which will help carriers when making reproductive decisions.
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