Zhiqi Ye, Da Li, Xiangli Niu, Aimin Yang, Zhiqi Pan, Ran Yu, Hao Gu, Rong Shi, Ling Wu, Yanfang Xiang, Guimin Hao, Yanping Kuang, Biaobang Chen, Lei Wang, Qing Sang, Lin Li, Juanzi Shi, Qiaoli Li
AIM: Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an important factor for female infertility. In this study, 935 infertile patients with IVF/ICSI failure were selected for whole-exome sequencing, and 18 probands carrying PATL2 variants with a recessive inheritance pattern were identified...
March 27, 2024: Journal of Assisted Reproduction and Genetics