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Background Oocyte maturation arrest at metaphase I leads to fertilization failure in humans. In early embryos, the tubulin beta 8 class VIII ( TUBB8 ) encodes a β-tubulin isotype and aids in the assembling of the human oocyte spindle. Mutations in the  TUBB8  potentially interfere with human oocyte maturation—a crucial prerequisite for fertilization and subsequent embryonic development. This study aims to investigate the novel mutations in  TUBB8  and their prevalence. Results Hundred fertile women (controls) and eleven infertile women with oocyte maturation arrest were chosen for the study. A total of five  TUBB8  heterozygous/homozygous mutations were found in eleven infertile females (p.A313V, p.C239W, p.R251Q, p.P358L, and p.G96R). The Exome Aggregation Consortium (ExAC), SIFT, and PolyPhen-2 analyses revealed that p. A313V has unknown pathogenicity and p.C239W, p.R251Q, p.P358L, and p.G96R have possible pathogenicity. The wild-type (WT) and four mutant gene constructs were transfected to Hela cells. The Western blot analysis indicates that the  TUBB8  expression of the p.C239W, p.R251Q, and p.G96R mutations was significantly decreased than that of WT. The immunofluorescence assay showed that the Hela cells transfected with either p.C239W, p.R251Q, or p.G96R mutations exhibited the disrupted microtubule structure, revealing a significant difference in the organization of the microtubule network compared to the WT. Conclusions We identified three novel variants and two reported variants out of 11 infertile women with oocyte metaphase I arrest. According to the present data,  TUBB8  gene variants account for 31.96% of all participants (109/341) with oocyte maturation arrest.

Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest