A novel homozygous mutation in the PADI6 gene causes early embryo arrest

Abstract

Plain Language Summary Some infertile patients experience multiple in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) failure owing to recurrent early embryo arrest. However, the underlying mechanisms remain largely unknown. Due to the development of whole-exome sequencing, early embryo arrest has been confirmed as a type of Mendelian disease. This study aimed to identify the genetic cause of early embryo arrest in patients and to expand the genetic spectrum. Furthermore, it can help doctors offer better suggestions to such patients and prevent patients from suffering from multiple IVF/ICSI failures.

Keywords

• Infertility
• Early embryo arrest
• Peptidylarginine deiminase type VI
• Mutation
• Subcortical maternal complex