【摘要】 目的探讨1例原发不孕伴卵母细胞成熟障碍患者的遗传学病因。方法对患者DNA进行全外显子组测序（WES）,对WES检测到的阳性位点进行Sanger测序验证,并对该位点进行生物学信息分析。结果 WES检测到患者PATL2第14和13外显子c.1 374A>G（p.Ile458Met）及c.1 289₁ 291delTCC（p.Leu430del）的复合杂合变异,母亲携带c.1 289₁ 291delTCC（p.Leu430del）杂合变异,父亲携带c.1 374A>G（p.Ile458Met）的杂合变异。结论患者PATL2复合杂合变异可能是其卵母细胞成熟障碍而不孕的遗传学病因。更多还原

【Abstract】 Objective To investigate the genetic etiology of a patient with primary infertility and oocyte maturation defect. Methods Whole exome sequencing（WES） was carried out on patient’s DNA to detect potential pathologic variants. The positive sites detected by WES were verified by Sanger sequencing, and the bioinformatics analysis of the mutation was analyzed. Results The patient was found to harbor compound heterozygous variants of the PATL2 in exon 14 and 13 c.1 374 A>G（p.Ile458 Met） and c.1 289₁ 291 delTCC（p.Leu430 del）, which were respectively inherited from her father and mother. Conclusions The compound heterozygous variation of PATL2 may be the genetic mechanism to explain infertility resulted from the disturbance of oocyte maturation.更多还原