摘要卵母细胞成熟阻滞是一种极其罕见的原发性不孕症，表现为卵子发育停滞，卵母细胞完全受精失败，受精前后卵母细胞凋亡以及早期胚胎发育停滞等。本案例探讨了1例经2次控制性超促排卵均未获成熟卵母细胞为特征的原发不孕患者的遗传学病因。采集患者外周血进行全外显子组测序，经生物信息学筛选可疑致病突变，并对患者及其父母进行Sanger测序验证。结果显示，患者检测到 PATL2基因的纯合无义突变c.1363C>T（p.Gln455*），Sanger测序结果显示其父母均为携带该突变的杂合变异，经HGMD数据库查询c.1363C>T为目前未见报道的罕见致病变异。本案例显示 PATL2基因突变可引起卵母细胞成熟阻滞，建议对这类患者尽早进行外显子测序并行遗传咨询，以选择适宜的助孕措施。

abstractsOocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.