ArticlePloS one2020
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Oxidative Stress in Ovarian Aging and Progress in Chinese Medicine Therapy.Chinese journal of integrative medicine · 2026Review
- Structural Activation of DNA Unwinding by MCM8/9/HROB.bioRxiv : the preprint server for biology · 2026Article
- A novel heterozygous splicing variant in theFrontiers in cell and developmental biology · 2026Article
- A TAp63alpha truncating variant associated with primary ovarian insufficiency lowers the cellular apoptotic rate.Journal of ovarian research · 2025Article
- Translational repression by 4E-T is crucial to maintain the prophase-I arrest in vertebrate oocytes.Nature communications · 2025Article
- AmNA-Modified Antisense Oligonucleotide Targeting MCM8 as a Cancer-Specific Chemosensitizer for Platinum Compounds.Cancer science · 2025Article
- Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.Journal of assisted reproduction and genetics · 2025Article
- Article
- A Novel HomozygousJournal of the Endocrine Society · 2025Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure.Human genetics · 2024Article
- MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency.Endocrinology, diabetes & metabolism case reports · 2024Article
- Stem cell-based therapeutic potential in female ovarian aging and infertility.Journal of ovarian research · 2024Review
- Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.BMC medical genomics · 2024Article
- Oligogenic basis of premature ovarian insufficiency: an observational study.Journal of ovarian research · 2024Observational
- A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.Molecular genetics & genomic medicine · 2024Article
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.Journal of assisted reproduction and genetics · 2024Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic analysis was performed using a customized panel of targeted massively parallel sequencing (TMPS) and the candidate variants were confirmed by Sanger sequencing. Additional copy number variation (CNV) analysis of TMPS samples was performed by CONTRA. Fifty women with POI (29 primary amenorrhea and 21 secondary amenorrhea) of unknown molecular diagnosis were included in this study, which was conducted in a tertiary referral center of clinical endocrinology. A genetic defect was obtained in 70% women with POI using the customized TMPS panel. Twenty-four pathogenic variants and two CNVs were found in 48% of POI women. Of these variants, 16 genes were identified as BMP8B, CPEB1, INSL3, MCM9, GDF9, UBR2, ATM, STAG3, BMP15, BMPR2, DAZL, PRDM1, FSHR, EIF4ENIF1, NOBOX, and GATA4. Moreover, a microdeletion and microduplication in the CPEB1 and SYCE1 genes, respectively, were also identified in two distinct patients. The genetic analysis of eleven patients was classified as variants of uncertain clinical significance whereas this group of patients harbored at least two variants in different genes. Thirteen patients had benign or no rare variants, and therefore the genetic etiology remained unclear. In conclusion, next-generation sequencing (NGS) is a highly effective approach to identify the genetic diagnoses of heterogenous disorders, such as POI. A molecular etiology allowed us to improve the disease knowledge, guide decisions about prevention or treatment, and allow familial counseling avoiding future comorbidities.
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