A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.
Yufeng WangQingtao QinYang YangShan DongYuting LiuMolin WangYong-Xin ZouYaoqin GongHaibin ZhouBaichun JiangPublished in: Journal of assisted reproduction and genetics (2022)
This study conforms previous studies and expands the mutational spectrum of BTG4. Our findings prove the functional importance of the C-terminal of BTG4. BTG4 is a potential diagnostic and therapeutic target for patients suffering from zygotic cleavage failure.