New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

To investigate the pathogenesis of the recurrent preimplantation embryonic arrest characterized by direct cleavage. Two affected individuals underwent time-lapse imaging to observe the cleavage behaviors in their final ICSI attempts. In addition, both patients were subjected to whole-exome sequencing. After the identification of possible causative genes, molecular modeling analyses were used to evaluate the possible effects of candidate...