Article
A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.
Reproductive sciences (Thousand Oaks, Calif.) - 1 Dec 2022
Zou Tingting, Xi Qingsong, Liu Zhenxing, Li Zhou, Hou Meiqi, Zhu Lixia, Jin Lei, Zhang Xianqin
Abstract excerpt
ZP1 is a critical glycoprotein in the formation of the zona pellucida. It plays an indispensable role in the maturation of oocytes. To identify the causative gene of empty follicle syndrome (EFS) in a patient from a consanguineous family, whole-exome sequencing was performed in the proband. We identified a novel homozygous nonsense mutation c.1260C > G (p. Tyr420X) in the ZP1 gene from two primary infertile...
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