Homozygous mutations in

Abnormal pronuclear formation during fertilisation and subsequent early embryonic arrest results in female infertility. In recent years, with the prevalence of assisted reproductive technology, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilisation and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilisation and early embryonic arrest remain largely unknown.We aim to identify genetic factors responsible for multiple pronuclei formation during fertilisation or early embryonic arrest.Whole-exome sequencing was performed in a cohort of 580 patients with abnormal fertilisation and early embryonic arrest. Effects of mutations were investigated in HEK293T cells by western blotting and immunoprecipitation, as well as minigene assay.We identified a novel homozygous missense mutation (c.397TG, p.C133G) and a novel homozygous donor splice-site mutation (c.546+5GA) in the meiotic geneOur study has identified mutations in