摘要目的:探讨1例辅助生殖技术助孕反复失败的原发性不孕症患者的遗传学病因。方法:采集患者及其丈夫的外周血样本，提取基因组DNA，应用临床外显子测序技术进行遗传学病因联合分析，Sanger测序方法对变异进行验证。结果:患者检测到 PATL2基因的复合杂合突变c.223-14_223-2del和c.1369G>T (p.G457*)，变异分别遗传自其父亲和母亲(均为杂合子)，诊断为卵母细胞成熟缺陷4型。 结论:PATL2基因突变引起卵母细胞成熟障碍可导致原发性不孕症的发生，且c.1369G>T (p.G457*)为新型罕见致病变异，扩大了该基因的致病变异谱。

abstractsObjective:To explore the genetic etiology of a patient with primary infertility and repeated failure of assisted reproductive technology.Methods:Peripheral blood samples of the patient and her husband were collected for the extraction of genomic DNA and clinical exome sequencing. Candidate variants were verified by Sanger sequencing.Results:The patient was found to harbor compound heterozygous variants of the PATL2 gene, namely c. 223-14_223-2del and c. 1369G>T (p.G457*). Sanger sequencing has verified that they were respectively inherited from her father and mother. The patient was diagnosed with oocyte maturation defect type 4. Conclusion:Oocyte maturation arrest due to mutations of the PATL2 gene can result in primary female infertility. Discovery of the novel c. 1369G>T (p.G457*) variant has expanded the spectrum of pathogenic variants of the PATL2 gene.