PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

Abstract excerpt

Abstract The genetic causes of oocyte meiotic deficiency (OMD), a form of primary infertility characterised by the production of immature oocytes, remain largely unexplored. Using whole exome sequencing, we found that 26% of a cohort of 23 subjects with OMD harboured the same homozygous nonsense pathogenic mutation in PATL2 , a gene encoding a putative RNA‐binding protein. Using Patl2 knockout mice, we confirmed...

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