Evidence map›Paper›PMID 34542254›Full record

ArticleJBRA assisted reproduction2022

Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.

Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JBRA assisted reproduction, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 29% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Cinthia RamosPost Graduate Program in Gynecology and Obstetrics, Federal University of Paraná, Curitiba, Brazil.
Maristela OcamposNeurogene Laboratory of Human Cytogenetics and Molecular Genetics, Florianópolis, Brazil.
Ingrid Tremel BarbatoNeurogene Laboratory of Human Cytogenetics and Molecular Genetics, Florianópolis, Brazil.
Viviane Margareth Scantamburlo NiehuesPost Graduate Program in Gynecology and Obstetrics, Federal University of Paraná, Curitiba, Brazil.
Maria da Graça BicalhoPost Graduate Program in Gynecology and Obstetrics, Federal University of Paraná, Curitiba, Brazil.
Renato NisiharaPost Graduate Program in Gynecology and Obstetrics, Federal University of Paraná, Curitiba, Brazil.
Universidade Federal do Paraná · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveOur study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).

methodsThis cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.

resultsA total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.

conclusionsIn our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.

Indexed as

Fragile X Messenger Ribonucleoprotein 1Ovarian DiseasesPrimary Ovarian InsufficiencyAdultBrazilCross-Sectional StudiesFemaleHumansMutationTrinucleotide RepeatsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1fragile X syndromemutationprimary ovarian insufficiency

Identifiers

PMID34542254
PMCPMC9118958
OpenAlexW3200015106

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.