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

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

doi:10.5935/1518-0557.20210063

Cited by 3 publications

(1 citation statement)

References 19 publications

(16 reference statements)

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“…Regarding the gray zone expansion, the frequency observed in our study (2.10%) is lower than in a control US population [2.8% in females (98/3474) and 2.4% in males (78/3273)] but slightly higher than in another but smaller control population from Canada (1.64%, 3/182 females) (Bretherick et al, 2005). However, our POI cohort shows a similar frequency of intermediate size repeat compared to other POI cohorts from Brazil (1.92%) (Ramos et al, 2022) or China (2.9%) (Guo et al, 2014). Given that the prevalence of FMR1 alleles varies considerably between geographical areas and according to the assessed population, it suggests founder effects.…”

Section: Discussionsupporting

confidence: 70%

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Quilichini,

Perol,

Cuisset

et al. 2023

American J of Med Genetics Pt A

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FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and characterized the CGG/AGG substructure in 44 women carrying an abnormal FMR1 repeat expansion number, compared to a group of 25 pregnant women carrying an abnormal FMR1 CGG repeat size. Allelic complexity scores of the FMR1 gene were calculated and compared between the two groups. In the DOR/POI cohort, 2.1% of women presented with an intermediate repeat size and 1.9% with a premutation. Our results suggest that the risk of POI is highest in the mid‐range of CGG repeats. We observed that the allelic score is significantly higher in POI women compared to the pregnant women group (p‐value = 0.02). We suggest that a high allelic score due to more than 2 AGG interspersions in the context of an intermediate number of repetitions could favor POI. Larger studies are still needed to evaluate the relevance of this new tool for the determination of the individual risk of developing POI in women with abnormal number of CGG repeats.

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Section: Discussionsupporting

confidence: 70%

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Quilichini,

Perol,

Cuisset

et al. 2023

American J of Med Genetics Pt A

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Genetic aspects of POI and «poor response»: a modern view of the problem

Adamyan,

Kuznetsova,

Pavlova

et al. 2023

Probl. reprod.

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Selected Genetic Factors Associated with Primary Ovarian Insufficiency

Chen

Jiang

Zhang

2023

IJMS

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Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional ovaries in women before the age of 40. It is characterized by primary amenorrhea or secondary amenorrhea. As regards its etiology, although many POI cases are idiopathic, menopausal age is a heritable trait and genetic factors play an important role in all POI cases with known causes, accounting for approximately 20% to 25% of cases. This paper reviews the selected genetic causes implicated in POI and examines their pathogenic mechanisms to show the crucial role of genetic effects on POI. The genetic factors that can be found in POI cases include chromosomal abnormalities (e.g., X chromosomal aneuploidies, structural X chromosomal abnormalities, X-autosome translocations, and autosomal variations), single gene mutations (e.g., newborn ovary homeobox gene (NOBOX), folliculogenesis specific bHLH transcription factor (FIGLA), follicle-stimulating hormone receptor (FSHR), forkhead box L2 (FOXL2), bone morphogenetic protein 15 (BMP15), etc., as well as defects in mitochondrial functions and non-coding RNAs (small ncRNAs and long ncRNAs). These findings are beneficial for doctors to diagnose idiopathic POI cases and predict the risk of POI in women.

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

Cited by 3 publications

References 19 publications

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Genetic aspects of POI and «poor response»: a modern view of the problem

Selected Genetic Factors Associated with Primary Ovarian Insufficiency

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