This is the first report of a recessive deleterious mutation in in humans. The clinical phenotype recapitulates that observed in the knockout mice where this gene was demonstrated to participate in long interspersed element-1 retrotransposon silencing. If this function is preserved in human, our data underscore the importance of maintaining DNA stability in the human male germ line.

In the generally understudied population of Arab-Bedouin women living in southern Israel, we found a high prevalence of PPDS. The unique risk factors described in our research can inform health care professionals in designing interventions for early detection and prevention of PPD.

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