Article
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.
Human mutation - 1 Feb 2022
Zhang Zhiqiang, Guo Qi, Jia Lei, Zhou Chuanchuan, He Shujing, Fang Cong, Zhang Minfang, Sun Peng, Zeng Zhi, Wang Meng, Wang Dandan, Liang Xiaoyan
Abstract excerpt
The zona pellucida (ZP) is an extracellular matrix surrounding mammalian oocytes. It is composed of three to four glycoproteins, ZP1-ZP4. ZP3 is essential for sperm binding and zona matrix formation. Here, we identified a novel heterozygous mutation (NM_001110354.2:c.502_504delGAG) of ZP3, occurring in a pair of sisters with empty follicle syndrome (EFS). A mouse model with the same mutation was established using...
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