Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality

This study implicates a previously unreported compound heterozygous combination of the <i>PADI6</i> variants c.707dupT and c.2009_2010delAG as the potential genetic basis of PREMBL2 in this individual, based on their predicted disruptive effects. However, as a single-case study, these findings cannot be generalized. Future research should focus on validating these variants in additional patients and functionally characterizing their effects to definitively establish causality and understand their role in early embryonic arrest.