Case Report: human early embryonic arrest in a consanguineous Chinese family caused by a novel missense variant of PADI6.

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Peptidyl arginine deiminase 6 (PADI6) is a member of the subcortical maternal complex, and PADI6 biallelic mutations have been reported to be cause female infertility via abnormalities in embryonic development. This study examined a consanguineous Chinese family in which two sisters had infertility caused by early embryonic arrest. Whole exome sequencing was performed on the affected sisters and their parents to identify the potential causative mutated genes. A novel missense variant in PADI6 (NM_207421:exon16:c.G1864A:p.V622M) was identified as the pathogenic cause of female infertility caused by early embryonic arrest. Subsequent experiments confirmed the segregation pattern of this PADI6 variant with a recessive mode of inheritance. This variant has not been reported in public databases. Furthermore, in silico analysis predicted that the missense variant was detrimental to the function of PADI6, and the mutated site was highly conserved among several species. In conclusion, our study identified a novel mutation in PADI6, further expanding the spectrum of mutations of this gene.