Feng, R., Sang, Q., Kuang, Y., et al., Mutations in TUBB8 and human oocyte meiotic arrest, N. Engl. J. Med., 2016, vol. 374, no. 3, pp. 223–232. https://doi.org/10.1056/NEJMoa1510791

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lin, T., Liu, W., Han, W., et al., Genetic screening and analysis of TUBB8 variants in females seeking ART, Reprod. Biomed. Online, 2023, vol. 46, no. 2. pp. 244–254.

Article  CAS  PubMed  Google Scholar 

Chen, B., Wang, W., Peng, X., et al., The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility, Eur. J. Hum. Genet., 2019, vol. 27, no. 2, pp. 300–307. https://doi.org/10.1038/s41431-018-0283-3

Article  CAS  PubMed  Google Scholar 

Li, H. and Durbin, R., Fast and accurate short read alignment with Burrows–Wheeler transform, Bioinformatics, 2009, vol. 25, no. 14, pp. 1754–1760. https://doi.org/10.1093/bioinformatics/btp324

Article  CAS  PubMed  PubMed Central  Google Scholar 

McKenna, A., Hanna, M., Banks, E., et al., The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res., 2010, vol. 20, no. 9, pp. 1297–1303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Janke, C., The tubulin code: molecular components, readout mechanisms, and functions, J. Cell Biol., 2014, vol. 206, no. 4, pp. 461–472. https://doi.org/10.1083/jcb.201406055

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao, T., Guo, J., Xu, Y., et al., Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos, Reprod. Biomed. Online, 2021, vol. 43, no. 5, pp. 891–898. https://doi.org/10.1016/j.rbmo.2021.07.020

Article  CAS  PubMed  Google Scholar 

Chen, B., Li, B., Li, D., 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, vol. 32, no. 2, pp. 457–464. https://doi.org/10.1093/humrep/dew322

Article  CAS  PubMed  Google Scholar 

Chen, T., Bian, Y., Liu, X., et al., A recurrent missense mutation in ZP3 causes empty follicle syndrome and female infertility, Am. J. Hum. Genet., 2017, vol. 101, pp. 459–465. https://doi.org/10.1016/j.ajhg.2017.08.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dai, C., Hu, L., Gong, F., et al., ZP2 pathogenic variants cause in vitro fertilization failure and female infertility, Genet. Med., 2019, vol. 21, pp. 431–440. https://doi.org/10.1038/s41436-018-0064-y

Article  CAS  PubMed  Google Scholar 

Huang, L., Tong, X., Luo, L., et al., Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest, Reprod. Biomed. Online, 2017, vol. 35, pp. 305–310. https://doi.org/10.1016/j.rbmo.2017.05.017

Article  CAS  PubMed  Google Scholar 

Maddirevula, S., Coskun, S., Alhassan, S., et al., Female infertility caused by mutations in the oocyte-specific translational repressor PATL2, Am. J. Hum. Genet., 2017, vol. 101, no. 4, pp. 603–608. https://doi.org/10.1016/j.ajhg.2017.08.009

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sang, Q., Li, B., Kuang, Y., et al., Homozygous mutations in WEE2 cause fertilization failure and female infertility, Am. J. Hum. Genet., 2018, vol. 102, pp. 649–657. https://doi.org/10.1016/j.ajhg.2018.02.015

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang, A.C., Zhang, Y.S., Wang, B.S., et al., Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation, Gynecol. Endocrinol., 2018, vol. 34, no. 10, pp. 900–904. https://doi.org/10.1080/09513590.2018.1464138

Article  CAS  PubMed  Google Scholar 

Xing, Q., Wang, R., Chen, B., et al., Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family, J. Ovarian Res., 2020, vol. 13, no. 1, p. 42. https://doi.org/10.1186/s13048-020-00637-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang, P., Yin, C., Li, M., et al., Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects, Clin. Genet., 2021, vol. 99, no. 1, pp. 208–214. https://doi.org/10.1111/cge.13855

Article  CAS  PubMed  Google Scholar 

Zhang, Z., Li, B., Fu, J., et al., Bi-allelic missense pathogenic variants in TIRP13 cause female infertility characterized by oocyte maturation arrest, Am. J. Hum. Genet., 2020, vol. 107, no. 1, pp. 15–23. https://doi.org/10.1016/j.ajhg.2020.05.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao, L., Guan, Y., Wang, W., 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, vol. 37, no. 8, pp. 1837–1847. https://doi.org/10.1007/s10815-020-01830-6

Article  PubMed  PubMed Central  Google Scholar 

Zhao, L., Xue, S., Yao, Z., et al., Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development, Protein Cell, 2020, vol. 11, pp. 921–927. https://doi.org/10.1007/s13238-020-00756-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

McLaren, W., Gil, L., Hunt, S.E., et al., The ensemble variant effect predictor, Genome Biol., 2016, vol. 17, p. 122. https://doi.org/10.1186/s13059-016-0974-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karczewski, K.J., Francioli, L.C., Tiao, G., et al., The mutational constraint spectrum quantified from variation in 141 456 humans, Nature, 2020, vol. 581, no. 7809, pp. 434–443. https://doi.org/10.1038/s41586-020-2308-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vaser, R., Adusumalli, S., Leng, S.N., et al., SIFT missense predictions for genomes, Nat. Protoc., 2016, vol. 11, no. 1, pp. 1–9. https://doi.org/10.1038/nprot.2015.123

Article  CAS  PubMed  Google Scholar 

Adzhubei, I.A., Schmidt, S., Peshkin, L., et al., A method and server for predicting damaging missense mutations, Nat. Methods, 2010, vol. 7, no. 4, pp. 248–249. https://doi.org/10.1038/nmeth0410-248

Article  CAS  PubMed  PubMed Central  Google Scholar