Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.

doi:10.1007/s43032-022-00958-3

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Article

Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Oct 2022

Hou Meiqi, Zhu Lixia, Jiang Jinghang, Liu Zhenxing, Li Zhou, Jia Weimin, Hu Juan, Zhou Xiaopei, Zhang Dazhi, Luo Yalin, Peng Xuejie, Xi Qingsong, Jin Lei, Zhang Xianqin

Abstract excerpt

Zona pellucida (ZP) which is an extracellular matrix consisting of ZP1, ZP2, ZP3, and ZP4 plays a vital role in oocyte maturity, early embryonic development, and fertilization process. Any alterations of structure or function may lead to the abnormal formation of ZP and female infertility. Two novel heterozygous mutations c.1859G > A (p.Cys620Tyr) and c.1421 T > C (p.Leu474Pro) in ZP2 gene were recognized in...

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