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Abstract：
Empty follicle syndrome (EFS) is a condition in which no oocyte is retrieved from mature follicles after proper ovarian stimulation in an in vitro fertilization procedure. Genetic evidence accumulates for the etiology of recurrent EFS without pharmacological or iatrogenic problems. In this study, we present two infertile sisters in a family with EFS after three cycles of standard ovarian stimulation with human chorionic gonadotrophin and/or gonadotropin-releasing hormone agonist therapy. Via whole-exome sequencing and cosegregation test, we identified compound heterozygous mutations in the gene of ZP1 in both of the infertile sisters. Coimmunoprecipitation tests and homology modeling analysis confirmed that both mutated ZP1 disrupt the formation of oocyte zona pellucida by interrupting the interaction among ZP1, ZP2, and ZP3. We thus propose that the specific mutations in ZP1 gene render a causality for the intractable EFS.
摘要：
空卵泡综合征（EFS）是一种情况，在体外受精程序中，经过适当的卵巢刺激后，没有从成熟卵泡中取出卵母细胞。遗传证据积累了复发性EFS的病因，没有药理或医源性问题。在这项研究中,我们介绍了一个EFS家庭中的两名不育姐妹,他们接受了三个周期的人绒毛膜促性腺激素和/或促性腺激素释放激素激动剂治疗的标准卵巢刺激.通过全外显子组测序和共分离试验，我们在两个不育姐妹中发现了ZP1基因的复合杂合突变。共免疫沉淀测试和同源性建模分析证实，两种突变的ZP1都通过中断ZP1，ZP2和ZP3之间的相互作用来破坏卵母细胞透明带的形成。因此，我们提出ZP1基因中的特定突变为棘手的EFS提供了因果关系。
