Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

• DOI: 10.3389/fcell.2022.819667
• Publication Date: 2022-04-01T05:21:53Z
• Authors: Yao Xu; Rongxiang Wang; Zhi Pang; Zhiyun Wei; Lihua Sun; Sa Li; Guanghua Wang; Yu Liu; Yiwen Zhou; Hongjuan Ye; Liping Jin; Songguo Xue
• Keywords: 0301 basic medicine; Cell and Developmental Biology; 03 medical and health sciences; PADI6; QH301-705.5; female infertility; early embryonic arrest; subcortical maternal complex; Biology (General); novel variant

Early embryonic arrest denotes premature termination of development in preimplantation embryos, which is one the major phenotypes recurrent assisted reproduction failure. Padi6 proven to be a member subcortical maternal complex (SCMC) mice, essential oocyte maturation and embryogenesis. We other groups previously found that biallelic mutations PADI6 caused female infertility manifesting as early arrest. In this study, we identified two novel homozygous variants (p.Cys163Arg, p. Trp475*) infertile patients from cohort 75 females with phenotype An vitro expression study indicated severe decrease PADI6, might destruct stability SCMC. Our expands mutational spectrum further supports causality between infertility.