ArticleMolecular genetics & genomic medicine2020
Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.Frontiers in endocrinology · 2023Pooled it
- MCM8 promotes colorectal cancer progression by competitively inhibiting HRD1-mediated CDC42 ubiquitination and degradation.Journal of translational medicine · 2026Article
- MCM8 variants in two patients with primary ovarian insufficiency: clinical findings andFrontiers in endocrinology · 2026Article
- AmNA-Modified Antisense Oligonucleotide Targeting MCM8 as a Cancer-Specific Chemosensitizer for Platinum Compounds.Cancer science · 2025Article
- A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.Journal of assisted reproduction and genetics · 2025Article
- MCM8 promotes gastric cancer progression through RPS15A and predicts poor prognosis.Cancer medicine · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- A Human HomozygousGenes · 2024Article
- Stem-Cell-Derived Extracellular Vesicles: Unlocking New Possibilities for Treating Diminished Ovarian Reserve and Premature Ovarian Insufficiency.Life (Basel, Switzerland) · 2023Review
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Homozygous Loss ofFrontiers in cell and developmental biology · 2022Article
- MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence.NPJ genomic medicine · 2021Article
- Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.Molecular genetics & genomic medicine · 2021Article
- Premature ovarian insufficiency: pathogenesis and therapeutic potential of mesenchymal stem cell.Journal of molecular medicine (Berlin, Germany) · 2021Review
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Meiosis interrupted: the genetics of female infertility via meiotic failure.Reproduction (Cambridge, England) · 2021Review
- Integrative Analysis of Minichromosome Maintenance Proteins and Their Prognostic Significance in Melanoma.Frontiers in oncology · 2021Article
- Meiotic Recombination Defects and Premature Ovarian Insufficiency.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPremature ovarian insufficiency (POI) is one major cause of female infertility, minichromosome maintenance complex component 8 (MCM8) has been reported to be responsible for POI.
methodsWhole-exome sequencing was performed to identify the genetic variants of women with POI. Sanger sequencing was used to validate the variants in all the family members. Various bioinformatic software was used for the pathogenicity assessment. Reverse transcription polymerase chain reaction (RT-PCR), real-time quantitative PCR, and a chromosomal instability study induced by mitomycin C were performed to analyze the functional effects of the variant.
resultsA novel homozygous frameshift mutation (NM_032485.4:c.351_354delAAAG) of MCM8 gene was identified in the patients, segregated with POI in this family. This mutation is predicted to produce truncated MCM8 protein and to be pathogenic. Reverse transcription polymerase chain reaction revealed that the frameshift mutation led to a remarkably reduced level of MCM8 transcript products, and chromosomal instability study showed that the ability of mutant MCM8 to repair DNA breaks was impaired.
conclusionWe identified a novel homozygous frameshift mutation in the MCM8 gene in two affected sisters with POI, and functional analysis revealed that this mutation is pathogenic. Our findings enrich the MCM8 mutation spectrum and might help clinicians to make a precise diagnosis, thereby allowing better family planning and genetic counseling.
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