Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest

Normal oocyte meiosis is a prerequisite for successful human reproduction, and abnormalities in the process will result in infertility. In 2016, we identified mutations in TUBB8 as responsible for human oocyte meiotic arrest. However, the underlying genetic factors for most affected individuals remain unknown. TRIP13, encoding an AAA-ATPase, is a key component of the spindle assembly checkpoint, and recurrent homozygous nonsense variants and a splicing variant in TRIP13 are reported to cause Wilms tumors in children.

Source: The American Journal of Human Genetics - May 28, 2020 Category: Genetics & Stem Cells Authors: Zhihua Zhang, Bin Li, Jing Fu, Rong Li, Feiyang Diao, Caihong Li, Biaobang Chen, Jing Du, Zhou Zhou, Jian Mu, Zheng Yan, Ling Wu, Shuai Liu, Wenjing Wang, Lin Zhao, Jie Dong, Lin He, Xiaozhen Liang, Yanping Kuang, Xiaoxi Sun, Qing Sang, Lei Wang Tags: Article Source Type: research