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Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.

ABSTRACT: Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron-exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G?>?T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. Conclusion Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.

SUBMITTER: Xiang J

PROVIDER: S-EPMC6135992 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.

Xiang Jingjing J Wang Wei W Qian Chunfeng C Xue Jiangyang J Wang Ting T Li Haibo H Li Hong H

The Journal of international medical research 20180607 9

Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron-exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A35 ...[more]

PMID: 29877102

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Project description:Backgroundoocyte maturation arrest (OMA) is currently one of the major causes of in vitro fertilization (IVF) failure, and several gene mutations were found to be associated with OMA. The purpose of this study was to identify the oocyte phenotype, genetic diagnosis, and clinical outcomes of patients with OMA and explore their possible interrelationships, thus providing a more individualized and efficient treatment strategy guidance accordingly.MethodsA retrospective study was conducted, involving 28 infertile women with OMA in the Reproductive Medicine Center of Tongji Hospital from 2018 to 2021. Whole-exome sequencing was performed for the detection of gene mutations. Patients were classified into three groups based on their oocyte phenotype, and for each group, the immature oocytes were cultured in vitro and mature oocytes were fertilized to evaluate both the maturation capacity and developmental potential. The clinical outcomes of OMA patients with different gene mutations or from different groups were further analyzed and compared.ResultsTwenty-eight women with OMA were evaluated in this study. According to the stage of OMA, 14 (50.0%) women were classified as OMA Type-1 (GV arrest), 5 (17.9%) were OMA Type-2 (MI arrest), and 9 (32.1%) were OMA Type-3 (with both GV and MI arrest). Immature oocytes from OMA patients exhibited significantly lower maturation rates even after IVM, compared to those in general patients. Seven patients (25.0%) were detected to have deleterious variations in two genes (PATL2 and TUBB8), known to be associated with the OMA phenotype. Patients with identified mutations were found to have little opportunity to obtain offspring with their own oocytes. Among the patients without mutations identified, those classified as OMA Type-1 or Type-3 still had a chance to obtain offspring through IVF or natural pregnancy, while all patients in the Type-2 group failed to obtain live birth.ConclusionsThree different phenotypes were observed in patients with OMA. The clinical outcomes of patients were associated with the presence of gene mutations and the classification of oocyte phenotype, thus a reasonable triage system was proposed to optimize the allocation of health care resources and maximize patient benefit.

Dataset Information

Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.

Publications

Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.

Similar Datasets

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