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

VernacularTitle:PATL2基因复合杂合突变致卵母细胞成熟障碍一例
Author: Qinghua LEI ¹ ; Jiufeng LI ; Xianqiong ZHOU ; Victor Wei ZHANG
Author Information

1. 韶关市妇幼保健院产前诊断中心，广东　512026
Keywords: Oocyte maturation arrest; PATL2 gene; Assisted reproductive technology; Whole exome sequencing
From: Chinese Journal of Medical Genetics 2022;39(7):759-762
CountryChina
Language:Chinese
Abstract: 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.