@article{article_1303555, title={A CASE REPORT OF A RARE NONSENSE ZP1 VARIANT IN A PATIENT WITH OOCYTE MATURATION DEFECT}, journal={Journal of Istanbul Faculty of Medicine}, volume={86}, pages={264–267}, year={2023}, DOI={10.26650/IUITFD.1303555}, author={Berkay, Ezgi Gizem and Karaman, Birsen and Uyguner, Oya and Başaran, Seher}, keywords={OOMD, zona pellucida, ZP1, female infertility, exome sequencing}, abstract={After four unsuccessful assisted reproductive techniques trials, a female was referred for genetic analysis. In this case study, we aimed to investigate the genetic etiology of a female with infertility and oocyte maturation defect. Chromosome analysis and fluorescence in-situ hybridization (FISH) using X-centromeric (DXZ1) and SHOX-probe (SHOX/SE X) (CytoCell, Cambridge, UK) on interphase nuclei of lymphocytes and mucosal cells were performed. Exome sequencing using the Illumina platform and confirmatory studies, including intra-familial segregation analysis, was done by Sanger sequencing. Karyotyping and molecular cytogenetics studies were normal, and potential chromosomal abnormalities and mosaicism were excluded. WES data analysis identified a known, rare, nonsense pathogenic homozygous variant in exon 3 (NM_207341.4, c.628C>T; p.Q210*) of the ZP1 gene. Additionally, her parents, who were first-degree cousins, were heterozygotes for this variant. Zona pellucida is an essential glycoprotein that surrounds oocytes and contains four types of receptor proteins (ZP1-4). The detected mutation in the ZP1 gene leads to the premature stop codon, causing truncation of the ZP1 receptor protein. This is the first case report with a homozygous variant associated with oocyte maturation defect. Also, exome sequencing is a valuable method to identify the genetic etiology in complex, multigenic conditions like infertility.}, number={3}, publisher={Istanbul University}, organization={İstanbul Üniversitesi BAP Birimi}