ReviewJournal of assisted reproduction and genetics2021
The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility.
Review in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
- Post-Translational Modifications of Tubulin in Oocyte Maturation and Female Infertility.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility.Nature medicine · 2026Article
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- A novel mutation in ZP3 causes human ovulatory dysfunction and oocyte maturation arrest.Journal of ovarian research · 2025Article
- 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
- Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Infertile females with biallelic mutations in APC/C genes are characterized by oocyte or early embryo defects.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
- Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Journal of assisted reproduction and genetics · 2024Article
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Science (New York, N.Y.) · 2024Article
- Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.Journal of ovarian research · 2023Article
- Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.BMC medical genomics · 2023Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- The first mitotic division: a perilous bridge connecting the zygote and the early embryo.Human reproduction (Oxford, England) · 2023Article
- Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.Journal of assisted reproduction and genetics · 2023Article
- Review
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTUBB8 is a gene that is frequently analysed in the genetic diagnosis of female infertility; 102 variants of this gene have been identified. However, the evaluation of its pathogenicity and the resulting phenotypes vary. Here, we aimed to identify novel TUBB8 variants as well as to summarize the reported variants and phenotypes in order for them to be included in genetic counselling analyses.
methodsWe performed whole exome sequencing to screen for candidate variants in 100 infertile female subjects and 100 controls who were able to conceive naturally. All variants were confirmed by Sanger sequencing. The effects of the variants in oocytes/arrested embryos were assessed by morphological observations, polar body biopsies, and chromosome analysis. A molecular modelling analysis was used to evaluate the possible effects of variants on protein secondary structure.
resultsWe identified 29 TUBB8 variants, of which 20 were novel and five were maternally inherited. We identified three of a total of six recurrent variants that were specific for complete cleavage failure. Moreover, we obtained evidence that TUBB8 variants with large polar bodies had chromosome segregation errors.
conclusionsOur study expands the spectrum of TUBB8 variants, particularly for embryonic arrest. Together with the extant knowledge of TUBB8 variants, this study provides a foundation for the genetic counselling of female infertility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.