PATL2基因复合杂合突变致卵母细胞成熟障碍一例

Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case

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。

Objective 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.