RT Journal Article SR Electronic T1 Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 850 OP 857 DO 10.1136/jmedgenet-2021-107933 VO 59 IS 9 A1 Wei Zheng A1 Qian-Qian Sha A1 Huiling Hu A1 Fei Meng A1 Qinwei Zhou A1 Xueqin Chen A1 Shuoping Zhang A1 Yifan Gu A1 Xian Yan A1 Lei Zhao A1 Yurong Zong A1 Liang Hu A1 Fei Gong A1 Guangxiu Lu A1 Heng-Yu Fan A1 Ge Lin YR 2022 UL http://jmg.bmj.com/content/59/9/850.abstract AB Background Recurrent preimplantation embryo developmental arrest (RPEA) is the most common cause of assisted reproductive technology treatment failure associated with identified genetic abnormalities. Variants in known maternal genes can only account for 20%–30% of these cases. The underlying genetic causes for the other affected individuals remain unknown.Methods Whole exome sequencing was performed for 100 independent infertile females that experienced RPEA. Functional characterisations of the identified candidate disease-causative variants were validated by Sanger sequencing, bioinformatics and in vitro functional analyses, and single-cell RNA sequencing of zygotes.Results Biallelic variants in ZFP36L2 were associated with RPEA and the recurrent variant (p.Ser308_Ser310del) prevented maternal mRNA decay in zygotes and HeLa cells.Conclusion These findings emphasise the relevance of the relationship between maternal mRNA decay and human preimplantation embryo development and highlight a novel gene potentially responsible for RPEA, which may facilitate genetic diagnoses.Data are available upon reasonable request. The datasets used and/or analyzed during the current study available from the corresponding author on reasonable request.