Zou Tingting, Xi Qingsong, Liu Zhenxing, Li Zhou, Hou Meiqi, Zhu Lixia, Jin Lei, Zhang Xianqin
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, 430074, Wuhan, Hubei, China.
Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430074, Wuhan, Hubei, China.
Reprod Sci. 2022 Dec;29(12):3516-3520. doi: 10.1007/s43032-022-01024-8. Epub 2022 Jun 30.
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 patients. Western blot showed that Y420X mutation in ZP1 gene produced a truncated protein. However, the mutation had no significant effect on subcellular localization of the mutant protein. Our findings confirmed the important role of the ZP1 gene in human female reproduction, enriched the mutation spectrums of ZP1 gene, and expanded its applications in the clinical and molecular diagnoses of EFS.
ZP1是透明带形成过程中的一种关键糖蛋白。它在卵母细胞成熟过程中发挥着不可或缺的作用。为了鉴定一个近亲家庭中一名患者的空卵泡综合征（EFS）的致病基因，对先证者进行了全外显子测序。我们在两名原发性不孕患者中鉴定出ZP1基因中一个新的纯合无义突变c.1260C＞G（p.Tyr420X）。蛋白质免疫印迹法显示ZP1基因中的Y420X突变产生了一种截短的蛋白质。然而，该突变对突变蛋白的亚细胞定位没有显著影响。我们的研究结果证实了ZP1基因在人类女性生殖中的重要作用，丰富了ZP1基因的突变谱，并扩大了其在EFS临床和分子诊断中的应用。
