Molecular and Genetic Medicine

3^rd Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, Thessaloniki, Greece

Publications

• Case Report   
  Three Male Siblings Undergoing Multiple IVF Failures Where a PLCZ1 Mutation Finally Revealed After a WES Analysis. A Three Couple?s Odyssey due to a Genetic Cause Ended Using Donor Sperm Eventually: A Family Case Report
  Author(s): Maria Galiotou*, Robert Najdecki, Georgios Michos, Foteini Chouliar, Tatiana Chartomatsidou, Kakani Ourania, Nikos Peitsidis, Evi Timotheo, Christopikou Dimitra and Evaggelos Papanikolaou
  
  We present a case involving three brothers, all experiencing either normo- or oligospermia, who underwent several In-Vitro Fertilization (IVF) procedures without achieving a successful live birth. Each couple struggled with male or unexplained primary infertility for 10-15 years. Upon genetic testing, the second brother underwent Whole Exome Sequencing (WES), which revealed a mutation in the phospholipase C zeta 1 (PLCζ1) gene. This discovery introduced a new dimension to their infertility struggle, shedding light on the underlying issue hindering their ability to conceive. The PLCζ1 gene, situated on chromosome 12, governs the production of the PLCζ1 enzyme. This enzyme primarily operates within the head of spermatozoa, playing a crucial role in regulating calcium signaling during fertilization. PLCζ1 facilitates the generation of inosi.. Read More»
  DOI: 10.37421/1747-0862.2024.18.653

  Abstract HTML PDF