Infertility due to lack of zona pellucida caused by a compound heterozygous mutation in ZP1 gene

摘要

Lack of the zona pellucida (ZP) is one of the manifestations of an oocyte maturation disorder. In recent years, genetic factors have attracted much attention as a possible cause of ZP anomalies. In this study, we report a form of primary infertility characterized by abnormal eggs that lack the ZP, which resulted from a compound heterozygous autosomal recessive mutation in ZP1. This compound heterozygous mutation has been reported for the first time, and our results may expand the spectrum of known mutations in ZP genes and provide evidence of oocyte maturation disorders during genetic counseling.