Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

Frontiers in Cell and Developmental Biology

Sa Li¹  Zhi Pang²  Lihua Sun³  Songguo Xue³  Hongjuan Ye³  Yu Liu³  Yiwen Zhou³  Rongxiang Wang³  Zhiyun Wei⁴  Guanghua Wang⁴  Yao Xu⁴  Liping Jin⁴ 

[1] Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, University of Chinese Academy of Sciences, Beijing, China;Liver Cancer Institute, Zhongshan Hospital, Key Laboratory of Carcinogenesis and Cancer Invasion, Ministry of Education, Fudan University, Shanghai, China;Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China;Shanghai Key Laboratory of Maternal Fetal Medicine, Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China;

关键词: female infertility;    early embryonic arrest;    PADI6;    novel variant;    subcortical maternal complex;   

DOI  :  10.3389/fcell.2022.819667

来源: DOAJ

【 摘 要 】

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

【 授权许可】

Unknown