Biallelic variants in ZFP36L2 cause female infertility characterized by recurrent preimplantation embryo arrest

Recurrent preimplantation embryo developmental arrest (RPEA) is the most common cause of assisted reproductive technology failure though the causes remain unknown. This study emphasizes the relevance of the association between maternal mRNA decay and human preimplantation embryo development. A novel potential gene ZFP36L2 was identified as a factor associated with female infertility characterized as RPEA. Biallelic variants of ZFP36L2 prevented maternal mRNA decay in zygotes and resulted in the loss of the embryo developmental potential. This study provides information on a new diagnostic genetic marker for RPEA. (By Prof. Ge Lin and Heng-Yu Fan, https://jmg.bmj.com/content/early/2021/10/05/jmedgenet-2021-107933)

Morphological parameters of zygotes from control and patient subjects (A). The scatter plot indicates a greater number of transcripts were upregulated (red) than downregulated (blue) in the ZFP36L2 variant zygotes relative to the negative controls (B).

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