Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.

Journal of assisted reproduction and genetics 2020 Aug

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We aimed to identify novel variants in TUBB8 and corresponding new abnormal phenotypes in oocytes/fertilization/ embryonic development responsible for female infertility. Sanger sequencing of TUBB8 was performed in infertile women with abnormalities in oocyte maturation or embryonic development. The effects of the variants were evaluated in patients' oocytes by morphological observations and immunofluorescence. We identified 34 novel variants of TUBB8 in 51 patients who were diagnosed with abnormalities in oocyte maturation or early embryonic development. We found a novel phenotype in which large polar bodies were present in three independent patients possibly associated with a recurrent variant. Moreover, we identified a novel type of TUBB8 variant consisting of an in-frame deletion-insertion, which has not been previously reported. Our present study identified 34 novel variants in TUBB8 in 51 patients. These patients show oocyte maturation arrest, oocytes with large polar body, fertilization failure, early embryonic arrest or embryonic implantation failure. These results expand the kinds of variants and phenotypic spectrum of TUBB8 variants with regard to female infertility.

Citation

Lin Zhao, Yichun Guan, Wenjing Wang, Biaobang Chen, Shiru Xu, Ling Wu, Zheng Yan, Bin Li, Jing Fu, Rong Shi, Juanzi Shi, Jing Du, Qiaoli Li, Zhihua Zhang, Jian Mu, Zhou Zhou, Jie Dong, Li Jin, Lin He, Xiaoxi Sun, Yanping Kuang, Lei Wang, Qing Sang. Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations. Journal of assisted reproduction and genetics. 2020 Aug;37(8):1837-1847