Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

Successful human reproduction requires normal spermatogenesis, oogenesis, fertilization, and early embryonic development, and abnormalities in any of these processes will result in infertility. Early embryonic arrest is commonly observed in infertile patients with recurrent failure of assisted reproductive technology (ART). However, the genetic basis for the phenotype is largely unknown. In this study, we identified biallelic mutations in NLRP2 and NLRP5 responsible for the phenotype. This finding provides additional potential diagnostic markers for patients with recurrent failure of ART and helps us to better understand the genetic basis of female infertility characterized by early embryonic arrest. (By Dr. Lei Wang, https://jmg.bmj.com/content/early/2019/03/15/jmedgenet-2018-105936 )

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