A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest

Frontiers in Genetics

Genetics

Xiangyu Zhu¹  Junshun Fang²  Guangyi Cao²  Na Kong²  Xiaoyue Shen²  Shanshan Wang²  Yuling Lin³ 

[1] Center for Reproductive Medicine and Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China;Center for Reproductive Medicine and Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China;Center for Molecular Reproductive Medicine, Nanjing University, Nanjing, China;State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China;

关键词: PADI6;    mutation;    cleavage arrest;    embryos;    reproduction;   

DOI  :  10.3389/fgene.2023.1243230

 received in 2023-06-20, accepted in 2023-08-16,  发布年份 2023

来源: Frontiers

【 摘 要 】

Repeated absence of useable embryos is a difficult problem for infertility patients. Among them, embryonic developmental arrest is more common, but the genetic cause is not known. The embryos of a patient who came to our hospital three times could not develop beyond the four-cell stage. In addition to recording the developmental details of the embryos by daily photo-taking, the PADI6R132C homozygous variants was further confirmed by whole-exome sequencing. Subsequently, PADI6R132C was analyzed by bioinformatics methods for conservativeness across species. In addition, the possible impact of the pathogenic mutation on the structure of the protein PADI6 were also assessed. Generally, we identified a homozygous variants [NM_207421.4, c.394C>T(p.R132C] in the middle protein-arginine deiminase domain in PADI6 gene. The homozygous variant is highly conserved across species. Homozygous variant in PADI6R132C could cause a human cleavage-stage embryonic arrest in female patients. These findings provide further evidence for the important roles of the homozygous PADI6R132C variant in embryonic development. Our findings contribute to a deeper understanding of the molecular genetic basis of female infertility.

【 授权许可】

Unknown   
Copyright © 2023 Cao, Zhu, Lin, Fang, Shen, Wang and Kong.