Identification of a novel mutation in PATL2 gene associated with the germinal vesicle arrest of oocytes

Abstract

The aim of this study was to investigate the genetic factors of a patient with germinal vesicle arrest in oocytes. Clinical data and blood samples were collected from the patient and some were amplified for high-throughput gene and Sanger sequencing. Several molecular and cellular experiments were performed to determine the association between the gene mutation and germinal vesicle arrest. Two mutation sites (c.1282G > T and c.1247C > A) were found in the PATL2 gene. The c.1282G > T mutation is associated with oocyte maturation abnormalities according to previous research, whereas c.1247C > A is a novel mutation of unknown clinical significance. In cell transfection experiments, qRT-PCR, immunofluorescence, and Western blotting revealed that the mRNA and protein levels of the PATL2 gene with the c.1247C > A mutation were reduced. Sanger sequencing suggested that the patient inherited the PATL2 mutations from her parents via a compound heterozygous mode of inheritance. Collectively, this study describes the PATL2-gene c.1247C > A mutation associated with germinal vesicle arrest in oocytes, providing a useful target for genetic and background tests for patients presenting with oocyte maturation abnormalities and/or germinal vesicle arrest following multiple unsuccessful attempts with assisted reproductive technology.