基础医学与临床 ›› 2022, Vol. 42 ›› Issue (1): 51-55.

• 研究论文 • 上一篇    下一篇

PATL2复合杂合变异致卵母细胞成熟障碍

霍明珠1,张轶乐1,徐家伟1,史昊1,刘益栋2,牛文彬1   

  1. 1. 郑州大学第一附属医院
    2. (郑州大学第一附属医院
  • 收稿日期:2021-01-22 修回日期:2021-05-28 出版日期:2022-01-05 发布日期:2022-01-05
  • 通讯作者: 牛文彬 E-mail:wenbinniu2004@163.com
  • 基金资助:
    转录因子FLI1激活长非编码RNA-LINC00473介导胚胎种植失败的作用与机制;RTEL1基因在人胚胎非整倍体发生过程的作用和机制研究

Compound heterozygous variation of PATL2 causes oocyte maturation defect

  • Received:2021-01-22 Revised:2021-05-28 Online:2022-01-05 Published:2022-01-05

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基因第15外显子c. 1374A>G(p.Ile458 Met)及c. 1289_1291delTCC( p.Leu430del) 的复合杂合变异,母亲携带c. 1289_1291delTCC( p.Leu430del) 杂合变异,父亲携带c. 1374A>G(p.Ile458 Met)的杂合变异。结论 患者PATL2基因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。

关键词: PATL2基因, 卵母细胞成熟障碍

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 bioinformatic analysis of the mutation was analyzed. Results The patient was found to harbor compound heterozygous variants of the PATL2 gene in exon 15 c. 1374A>G (p. Ile458 Met) and c. 1289_1291delTCC (p. Leu430del), which were respectively inherited from her father and mother. Conclusions The compound heterozygous variation of PATL2 gene may be the genetic cause of infertility caused by the disturbance of oocyte maturation.

Key words: PATL2 gene, Oocyte maturation defect

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