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Updated: Sep 5, 2025

Evaluation of the Spindle Assembly Checkpoint Integrity in Mouse Oocytes
Published on: September 13, 2022
[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case]
Qinghua Lei1, Jiufeng Li, Xianqiong Zhou
1Department of Prenatal Diagnosis Center, Shaoguan Maternal and Child Health Hospital, Shaoguan, Guangdong 512026, China. 639566213@qq.com.
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.
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