A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility

ConclusionThis study identified a novel pathogenic variant inZP2 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.

http://link.springer.com/10.1007/s10815-021-02107-2

Source: Journal of Assisted Reproduction and Genetics - February 18, 2021 Category: Reproduction Medicine Source Type: research