ArticleJournal of ovarian research2020
Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Article in Journal of ovarian research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- Functional Analysis of a Novel Missense Mutation c.1039A > G of TUBB8 in Infertile Women.Biochemical genetics · 2026Article
- 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
- A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Journal of assisted reproduction and genetics · 2024Article
- Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Advances in anatomy, embryology, and cell biology · 2024Review
- Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.BMC medical genomics · 2023Article
- Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- 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
- Genetic factors as potential molecular markers of human oocyte and embryo quality.Journal of assisted reproduction and genetics · 2021Review
- The Recurrent Mutation in PATL2 Inhibits Its Degradation Thus Causing Female Infertility Characterized by Oocyte Maturation Defect Through Regulation of the Mos-MAPK Pathway.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
purposeVariations in many genes may lead to the occurrence of oocyte maturation defects. To investigate the genetic basis of oocyte maturation defects, we performed clinical and genetic analysis of a pedigree.
methodsThe proband with oocyte maturation defect-2 receiving ovulation induction therapy and her parents were selected for clinical detection, whole exome sequencing and Sanger sequencing. One unrelated healthy woman received ovulation induction therapy as control. Mutations were assessed after frequency screening of public exome databases. Then homozygous variants shared by the proband and her parents were selected.
resultsArrest of oocytes maturation was observed. A new missense mutation in TUBB8 (TUBB8: NM_177,987: exon 2: c. C161T: p. A54V) was identified, which was shown to be rare compared with public databases. The variant was highly conserved among primates, and was suggested to be deleterious by online software prediction.
conclusionsThe homozygote of this variant (TUBB8: NM_ 177,987: exon 2:c.C161T: p.A54V) might affect spindle assembly, cause arrest of oocyte maturation and lead to oocyte maturation defect-2.
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Registered trials
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