Background: The zona pellucida (ZP) of human oocytes plays essential protective roles in sperm-egg interactions during fertilisation and embryo development. -null female rabbits exhibit a thin and irregular ZP, which severely impairs embryo development and fertility. However, the effects of defect on human female reproduction remain unknown.
Methods And Results: We performed whole-exome sequencing in 26 female patients with abnormal (thin and irregular) ZP and identified heterozygous variants in (OMIM: 613514) from 3 patients (approximately 11%). No variant was found in the 30 control women with proven fertility. We constructed mutated plasmids and found that the variants reduced the secretion of ZP4 in vitro. Lower suction pressure facilitated egg retrieval, and intracytoplasmic sperm injection (ICSI) was a desirable treatment for mutated patients with abnormal ZP.
Conclusions: We identified as a novel gene for human abnormal ZP and found that lower suction pressure and ICSI are efficient treatment strategies.
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