Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

Yao Xu; Rongxiang Wang; Zhi Pang; Zhiyun Wei; Lihua Sun; Sa Li; Guanghua Wang; Yu Liu; Yiwen Zhou; Hongjuan Ye; Liping Jin; Songguo Xue

doi:10.3389/fcell.2022.819667

Frontiers in Cell and Developmental Biology (Apr 2022)

Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest

Yao Xu,
Rongxiang Wang,
Zhi Pang,
Zhiyun Wei,
Lihua Sun,
Sa Li,
Guanghua Wang,
Yu Liu,
Yiwen Zhou,
Hongjuan Ye,
Liping Jin,
Songguo Xue

Affiliations

Yao Xu: 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
Rongxiang Wang: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China
Zhi Pang: Liver Cancer Institute, Zhongshan Hospital, Key Laboratory of Carcinogenesis and Cancer Invasion, Ministry of Education, Fudan University, Shanghai, China
Zhiyun Wei: 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
Lihua Sun: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China
Sa Li: Key Laboratory of Receptor Research, Shanghai Institute of Materia Medica, University of Chinese Academy of Sciences, Beijing, China
Guanghua Wang: 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
Yu Liu: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China
Yiwen Zhou: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China
Hongjuan Ye: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China
Liping Jin: 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
Songguo Xue: Reproductive Medicine Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China

DOI: https://doi.org/10.3389/fcell.2022.819667
Journal volume & issue: Vol. 10

Abstract

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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.

Published in Frontiers in Cell and Developmental Biology

ISSN: 2296-634X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General)
Website: https://www.frontiersin.org/journals/cell-and-developmental-biology

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