TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations

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dc.authoridDahan, MH/0000-0002-8121-7708en_US
dc.authoridSEZER, OZLEM TURKELİ/0000-0001-5727-7965en_US
dc.authorscopusid54997933000en_US
dc.authorscopusid7103083102en_US
dc.authorscopusid18038773000en_US
dc.authorscopusid55956690300en_US
dc.authorscopusid58562258900en_US
dc.authorscopusid57193709296en_US
dc.authorscopusid6701789739en_US
dc.authorwosidDahan, MH/K-2116-2015en_US
dc.authorwosidSEZER, OZLEM TURKELİ/HTR-0159-2023en_US
dc.contributor.authorEbru, Hatirnaz
dc.contributor.authorDahan, Michael H.
dc.contributor.authorSezer, Ozlem
dc.contributor.authorBasbug, Alper
dc.contributor.authorKaan, Hatirnaz
dc.contributor.authorGungor, Nur Dokuzeylul
dc.contributor.authorBaltaci, Volkan
dc.date.accessioned2024-08-23T16:04:34Z
dc.date.available2024-08-23T16:04:34Z
dc.date.issued2023en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractResearch question: What are the embryonic profiles and oocyte maturation dynamics in patients with tubulin beta eight class VIII (TUBB8) mutations leading to oocyte maturation abnormalities (OMAS), and are pregnancies possible in this population?Design: A prospective cohort study was undertaken in a private fertility clinic between January 2019 and December 2022. Whole-exome genomic studies (WES) were performed to detect mutation types. In-vitro maturation (IVM) was compared in 18 subjects: nine with TUBB8 mutations, and nine without TUBB8 mutations to act as the control group. The distributions of oocyte maturation and embryonic development profiles were recorded. IVF and IVM outcomes of the 18 cases were evaluated. The primary outcomes were the embryonic profiles and maturation dynamics of oocytes derived from IVF or IVM in women as related to TUBB8 mutations.Results: Mutations were detected in 52 of 89 (58.4%) women who underwent WES analysis. Twelve TUBB8 mutations were detected in nine women (10.1%) with OMAS. Seven novel TUBB8 mutations were noted. Two pregnancies were obtained in women with c.535 G>A TUBB8 mutations. When comparing IVM outcomes between women with and without TUBB8 mutations, there were no differences in oocyte, embryo or pregnancy parameters (P>0.05 in all cases).Conclusions: It is clear that further TUBB8 mutations which cause oocyte or embryonic arrest will be detected in future. Although biochemical or ectopic pregnancies may be possible in some of these women, no live births or ongoing pregnancies have been reported to date.en_US
dc.identifier.doi10.1016/j.rbmo.2023.06.012
dc.identifier.issn1472-6483
dc.identifier.issn1472-6491
dc.identifier.issue5en_US
dc.identifier.pmid37672871en_US
dc.identifier.scopus2-s2.0-85169818027en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1016/j.rbmo.2023.06.012
dc.identifier.urihttps://hdl.handle.net/20.500.12684/14272
dc.identifier.volume47en_US
dc.identifier.wosWOS:001100117000001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Sci Ltden_US
dc.relation.ispartofReproductive Biomedicine Onlineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectInfertilityen_US
dc.subjectIn-vitro maturationen_US
dc.subjectOocyte maturation abnormalitiesen_US
dc.subjectPregnancyen_US
dc.subjectTubulin beta eight class VIII mutationsen_US
dc.subjectIn-Vitro Maturationen_US
dc.subjectFertilizationen_US
dc.subjectMechanismsen_US
dc.subjectArresten_US
dc.titleTUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutationsen_US
dc.typeArticleen_US

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