[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case].

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.