{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:17:17Z","timestamp":1760239037161,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T00:00:00Z","timestamp":1600732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>We identified a novel splice site mutation of the PROS1 gene 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 the PROS1 gene was performed in the proband and the proband\u2019s 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 the PROS1 gene 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 in PROS1 gene.<\/jats:p>","DOI":"10.3390\/medicina56090485","type":"journal-article","created":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T09:40:56Z","timestamp":1600767656000},"page":"485","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7"],"prefix":"10.3390","volume":"56","author":[{"given":"Magdalena","family":"Mro\u017cek","sequence":"first","affiliation":[{"name":"The John Paul II Hospital, 80 Pr\u0105dnicka Street, 31-202 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Wypasek","sequence":"additional","affiliation":[{"name":"The John Paul II Hospital, 80 Pr\u0105dnicka Street, 31-202 Krakow, Poland"},{"name":"Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Alhenc-Gelas","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019H\u00e9mostase, Service de M\u00e9decine Vasculaire, Centre Claude Bernard de Recherche sur les Maladies Vasculaires, H\u00f4pital Broussais\u2013AP-HP, 75116 Paris, France"},{"name":"Soci\u00e9t\u00e9 Serbio, 92230 Gennevilliers, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0324-8506","authenticated-orcid":false,"given":"Daniel P.","family":"Potaczek","sequence":"additional","affiliation":[{"name":"The John Paul II Hospital, 80 Pr\u0105dnicka Street, 31-202 Krakow, Poland"},{"name":"Institute of Laboratory Medicine and Translational Inflammation Research Division &amp; Core Facility for Single Cell Multiomics Members of the German Center for Lung Research (DZL) and Universities of Giessen and Marburg Lung Center (UGMLC), Philipps-University Marburg, 35043 Marburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anetta","family":"Undas","sequence":"additional","affiliation":[{"name":"The John Paul II Hospital, 80 Pr\u0105dnicka Street, 31-202 Krakow, Poland"},{"name":"Institute of Cardiology, Jagiellonian University Medical College, 30-705 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1515\/CCLM.2010.369","article-title":"Protein C and protein S deficiencies: Similarities and differences between two brothers playing in the same game","volume":"48","author":"Bereczky","year":"2010","journal-title":"Clin. 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