Carson SA, Kallen AN. Diagnosis and management of infertility: a review. JAMA. 2021;326:65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Infertility prevalenceestimates. 1990–2021. Geneva: World Health Organization; 2023. https://www.who.int/publications/i/item/978920068315.

Google Scholar 

Hart RJ. Physiological aspects of female fertility: role of the Environment, Modern Lifestyle, and Genetics. Physiol Rev. 2016;96:873–909.

Article  CAS  PubMed  Google Scholar 

Yatsenko SA, Rajkovic A. Genetics of human female infertility†. Biol Reprod. 2019;101:549–66.

Article  PubMed  PubMed Central  Google Scholar 

Li R, Albertini DF. The road to maturation: somatic cell interaction and self-organization of the mammalian oocyte. Nat Rev Mol Cell Biol. 2013;14:141–52.

Article  CAS  PubMed  Google Scholar 

Coticchio G, Dal Canto M, Mignini Renzini M, Guglielmo MC, Brambillasca F, Turchi D, et al. Oocyte maturation: gamete-somatic cells interactions, meiotic resumption, cytoskeletal dynamics and cytoplasmic reorganization. Hum Reprod Update. 2015;21:427–54.

Article  CAS  PubMed  Google Scholar 

Solovova OA, Chernykh VB. Genetics of Oocyte Maturation defects and early embryo development arrest. Genes. 2022;13:1920.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, et al. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med. 2016;374:223–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sirajuddin M, Rice LM, Vale RD. Regulation of microtubule motors by tubulin isotypes and post-translational modifications. Nat Cell Biol. 2014;16:335–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yan L, Yang M, Guo H, Yang L, Wu J, Li R, et al. Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells. Nat Struct Mol Biol. 2013;20:1131–9.

Article  CAS  PubMed  Google Scholar 

Zheng W, Hu H, Zhang S, Xu X, Gao Y, Gong F, et al. The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility. J Assist Reprod Genet. 2021;38:2261–72.

Article  PubMed  PubMed Central  Google Scholar 

Zhang J, Li S, Huang F, Xu R, Wang D, Song T et al. A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest. J Assist Reprod Genet [Internet]. 2023 [cited 2023 May 17]; Available from: https://link.springer.com/https://doi.org/10.1007/s10815-023-02734-x.

Lin T, Liu W, Han W, Tong K, Xiang Y, Liao H, et al. Genetic screening and analysis of TUBB8 variants in females seeking ART. Reprod Biomed Online. 2023;46:244–54.

Article  CAS  PubMed  Google Scholar 

Yu W, Zhang S, Yin B, Dong C, Zhang VW, Zhang C. Identification of TUBB8 variants in 5 primary infertile women with multiple phenotypes in oocytes and early embryos. Reprod Sci. 2023;30:1376–82.

Article  CAS  PubMed  Google Scholar 

Chen B, Li B, Li D, Yan Z, Mao X, Xu Y, et al. Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development. Hum Reprod. 2017;32:457–64.

Article  CAS  PubMed  Google Scholar 

Yao Z, Zeng J, Zhu H, Zhao J, Wang X, Xia Q, et al. Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest. J Ovarian Res. 2022;15:38.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huo M, Zhang Y, Shi S, Shi H, Liu Y, Zhang L, et al. Gene spectrum and clinical traits of nine patients with oocyte maturation arrest. Front Genet. 2022;13:772143.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feng R, Yan Z, Li B, Yu M, Sang Q, Tian G, et al. Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. J Med Genet. 2016;53:662–71.

Article  CAS  PubMed  Google Scholar 

Chen B, Wang W, Peng X, Jiang H, Zhang S, Li D, et al. The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. Eur J Hum Genet. 2019;27:300–7.

Article  CAS  PubMed  Google Scholar 

Zhao L, Guan Y, Wang W, Chen B, Xu S, Wu L, et al. Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations. J Assist Reprod Genet. 2020;37:1837–47.

Article  PubMed  PubMed Central  Google Scholar 

Sha Q, Zheng W, Feng X, Yuan R, Hu H, Gong F, et al. Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei. Gene. 2021;769:145227.

Article  CAS  PubMed  Google Scholar 

Yang P, Yin C, Li M, Ma S, Cao Y, Zhang C, et al. Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects. Clin Genet. 2021;99:208–14.

Article  CAS  PubMed  Google Scholar 

Huang L, Tong X, Luo L, Zheng S, Jin R, Fu Y, et al. Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest. Reprod Biomed Online. 2017;35:305–10.

Article  CAS  PubMed  Google Scholar 

Cao T, Guo J, Xu Y, Lin X, Deng W, Cheng L, et al. Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos. Reprod Biomed Online. 2021;43:891–8.

Article  CAS  PubMed  Google Scholar 

Xiang J, Wang W, Qian C, Xue J, Wang T, Li H, et al. Human oocyte maturation arrest caused by a novel missense mutation in TUBB8. J Int Med Res. 2018;46:3759–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu Z, Xi Q, Zhu L, Yang X, Jin L, Wang J, et al. TUBB8 mutations cause female infertility with large Polar body oocyte and fertilization failure. Reprod Sci. 2021;28:2942–50.

Article  CAS  PubMed  Google Scholar 

Lu Q, Zhang X, Cao Q, Wang C, Ding J, Zhao C, et al. Expanding the genetic and phenotypic spectrum of female infertility caused by TUBB8 mutations. Reprod Sci. 2021;28:3448–57.

Article  CAS  PubMed  Google Scholar 

Li W, Li Q, Xu X, Wang C, Hu K, Xu J. Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility. Eur J Obstet Gynecol Reproductive Biology. 2022;279:132–9.

Article  CAS  Google Scholar 

Yuan P, Zheng L, Liang H, Li Y, Zhao H, Li R, et al. A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs. J Assist Reprod Genet. 2018;35:1349–56.

Article  PubMed  PubMed Central  Google Scholar 

Yuan H, Chen J, Li N, Miao H, Chen Y, Lyu S, et al. Target-sequencing of female infertility pathogenic gene panel and a Novel TUBB8 loss-of-function mutation. Front Genet. 2022;13:865103.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lanuza-López MC, Martínez-Garza SG, Solórzano-Vázquez JF, Paz-Cervantes D, González-Ortega C, Maldonado-Rosas I, et al. Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment. Gynecol Endocrinol. 2020;36:829–34.

Article  PubMed  Google Scholar 

Wang A-C, Zhang Y-S, Wang B-S, Zhao X-Y, Wu F-X, Zhai X-H, et al. Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation. Gynecol Endocrinol. 2018;34:900–4.

Article  CAS  PubMed  Google Scholar 

Jia Y, Li K, Zheng C, Tang Y, Bai D, Yin J, et al. Identification and rescue of a novel TUBB8 mutation that causes the first mitotic division defects and infertility. J Assist Reprod Genet. 2020;37:2713–22.

Article  PubMed  PubMed Central  Google Scholar