Journal article

Publication year: 2020

Journal: Medicina

Volume number: 56

Issue number: 9

ISSN: 1010-660X

eISSN: 1648-9144

Open access status: Gold

DOI Link: https://doi.org/10.3390/medicina56090485

Publisher: MDPI

Abstract: 
We identified a novel splice site mutation of thePROS1gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant. A novel mutation was detected in a 26-year-old woman with a history of venous thromboembolism (VTE) provoked by oral contraceptives. Her family history of VTE was positive. The sequence analysis of thePROS1gene was performed in the proband and the proband's family. The proband and their asymptomatic father had lower free PS levels (45% and 50%, respectively) and PS activity (48% and 44%, respectively). Total PS levels were normal (65.6% and 62.4%, respectively). The sequence analysis of thePROS1gene revealed the presence of heterozygous deletion at the nucleotide position c.602-2 in intron 6, just upstream of exon 7, detected in the proband and her father. This variant alters the splice acceptor site of exon 7, and, according to the in silico prediction, it is highly likely to cause in-frame exon 7 skipping. We also presented follow-up data of two other Polish patients with PS deficiency associated with splice site mutations inPROS1gene.

Harvard Citation style: Mrozek, M., Wypasek, E., Alhenc-Gelas, M., Potaczek, D. and Undas, A. (2020) Novel Splice Site Mutation in thePROS1Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7, Medicina, 56(9), Article 485. https://doi.org/10.3390/medicina56090485

APA Citation style: Mrozek, M., Wypasek, E., Alhenc-Gelas, M., Potaczek, D., & Undas, A. (2020). Novel Splice Site Mutation in thePROS1Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7. Medicina. 56(9), Article 485. https://doi.org/10.3390/medicina56090485