ArticleJournal of assisted reproduction and genetics2018
A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs.
Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes.International journal of molecular sciences · 2025Pooled it
- Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.International journal of molecular sciences · 2021Pooled it
- Post-Translational Modifications of Tubulin in Oocyte Maturation and Female Infertility.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Article
- Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.Journal of assisted reproduction and genetics · 2024Review
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Early embryonic failure caused by a novel mutation in theWorld journal of clinical cases · 2024Article
- Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Advances in anatomy, embryology, and cell biology · 2024Review
- A case report of a family with developmental arrest of human prokaryotic stage zygote.Frontiers in cell and developmental biology · 2024Article
- Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.Journal of ovarian research · 2023Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.BMC medical genomics · 2023Article
- The first mitotic division: a perilous bridge connecting the zygote and the early embryo.Human reproduction (Oxford, England) · 2023Article
- A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.Journal of assisted reproduction and genetics · 2023Article
- Review
- Unraveling the Puzzle: Oocyte Maturation Abnormalities (OMAS).Diagnostics (Basel, Switzerland) · 2022Review
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.Journal of ovarian research · 2022Article
- The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility.Journal of assisted reproduction and genetics · 2021Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
purposeCleavage of the zygote during human reproduction is a key event of early embryonic development. The genetic events associated with idiopathic embryonic cleavage failure are not certain. Mutations in the tubulin beta 8 class VIII (TUBB8) gene have been reported to be associated with oocyte maturation, fertilization, and developmental arrest. Here, we aimed to assess the clinical and genetic characteristics of complete cleavage failure in fertilized eggs.
methodsWe have characterized a patient with a 9-year history of primary infertility in a non-consanguineous family from China. The patient presented complete cleavage failure in all two-pronuclear (2PN) fertilized oocytes after 2 cycles of in vitro fertilization (IVF). We performed Sanger sequencing of the TUBB8 gene in the patient, and further bioinformatics analysis to identify pathogenesis of gene.
resultsA novel homozygous mutation, c.322G > A (p.Glu108Lys), was detected, and this change was absent from 179 control subjects. Glutamic acid is highly conserved at this position, and replacement by lysine was predicted to be repelled by the α-tubulin positive region, disrupting the α-β tubulin interaction.
conclusionsOur findings presented a homozygous mutation of TUBB8 associated with complete cleavage failure in fertilized eggs and provided new data for the genotype-phenotype of TUBB8-related diseases.
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Registered trials
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