Article
A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
Journal of assisted reproduction and genetics - 1 May 2021
Sun Yiming, Zeng Yang, Chen Hua, Zhou Zhou, Fu Jing, Sang Qing, Wang Lei, Sun Xiaoxi, Chen Biaobang, Xu Congjian
Abstract excerpt
PURPOSE: We aimed to identify pathogenic variants in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype. METHODS: Whole-exome sequencing was performed in the two affected sisters, and Sanger sequencing was used to confirm the identified variants. The effects of the identified variant were further investigated in mouse oocytes and Chinese hamster ovary (CHO) cells. RESULTS: We identified a...
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