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The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility
- Publication Year :
- 2018
- Publisher :
- Springer International Publishing, 2018.
-
Abstract
- Human oocyte maturation is a precondition for fertilization and ensuing embryonic development. Previously, we identified TUBB8 variants as a genetic determinant of human oocyte maturation arrest and showed that these variants cause variable and mixed phenotypes in oocyte maturation and early embryo development. We also estimated that rare inherited or de novo variants in the TUBB8 gene accounted for 30% of individuals in a small cohort of patients affected by oocyte maturation arrest. In the present study, we recruited a further 87 patients from unrelated families diagnosed with oocyte maturation or early embryonic arrest and identified 30 patients carrying TUBB8 variants. The corresponding phenotypes not only include oocyte maturation arrest, failure of fertilization, and early embryonic arrest, but also extend to the new phenotype of failure of embryo implantation. These observations provide the most detailed mutational and phenotypic spectrum of TUBB8, further extend the spectrum of variants and dysfunctional oocyte and embryo phenotypes caused by TUBB8 variants, and confirm previous findings for a critical role of TUBB8 during oocyte maturation and early embryonic development. Thus, TUBB8 mutation screening might not only be a genetic diagnostic marker for patients with oocyte maturation arrest, but might also have clinical implications for evaluating the competence of patients’ functional oocytes with first polar body (PB1).
- Subjects :
- Infertility
Adult
Biology
medicine.disease_cause
Oogenesis
Article
Andrology
03 medical and health sciences
Tubulin
Genetics
medicine
Humans
Embryo Implantation
Genetics (clinical)
0303 health sciences
Mutation
030305 genetics & heredity
Embryogenesis
Embryo
Oocyte
medicine.disease
Phenotype
Embryonic stem cell
medicine.anatomical_structure
Female
Infertility, Female
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....ee2605fc8cdf58b0f9da1caa456430c0