Basic & Clinical Medicine ›› 2022, Vol. 42 ›› Issue (1): 51-55.doi: 10.16352/j.issn.1001-6325.2022.01.004

• Original Articles • Previous Articles     Next Articles

Compound heterozygous variation of PATL2 causes oocyte maturation defect

HUO Ming-zhu, ZHANG Yi-le, XU Jia-wei, SHI Hao, LIU Yi-dong, NIU Wen-bin*   

  1. Henan Key Laboratory of Reproduction and Genetics, Center for Reproductive Medicine, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
  • Received:2021-04-22 Revised:2021-06-03 Online:2022-01-05 Published:2022-01-05
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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 374A>G (p.Ile458Met) and c.1 289_1 291delTCC (p.Leu430del), 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.

Key words: PATL2 gene, oocyte maturation defect

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