Basic & Clinical Medicine ›› 2022, Vol. 42 ›› Issue (1): 51-55.

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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

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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