A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
Yiming SunYang ZengHua ChenZhou ZhouJing FuQing SangLei WangXiaoxi SunBiaobang ChenCongjian XuPublished in: Journal of assisted reproduction and genetics (2021)
This study identified a novel pathogenic variant in ZP2 that produces a truncated ZP2 protein. The variant might disrupt the assembly of ZP2-ZP3 dimers, thus resulting in a thin ZP and female infertility.