Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia.
Protein S deficiency
Thrombophilia
Thrombosis
Venous thromboembolism
Journal
Acta haematologica
ISSN: 1421-9662
Titre abrégé: Acta Haematol
Pays: Switzerland
ID NLM: 0141053
Informations de publication
Date de publication:
2021
2021
Historique:
received:
29
01
2020
accepted:
07
05
2020
pubmed:
13
7
2020
medline:
7
4
2021
entrez:
13
7
2020
Statut:
ppublish
Résumé
Protein S (PS) is an important anticoagulant. Its main function is to act as a non-enzymatical cofactor of activated protein C. PS deficiency is defined as low plasma levels of PS and/or loss of function associated with variable risk of venous thromboembolism (VTE). We report 2 novel variants in the PS gene (PROS1) which are associated with PS deficiency and severe thrombophilic diathesis in 2 patients. Patient 1 suffered from 3 VTE events, including a spontaneous VTE at the age of 19. Patient 2 suffered from 2 provoked VTE events. In both patients decreased plasma levels of PS antigen as well as decreased PS activity were found. Gene sequencing results showed a heterozygous deletion of 8 base pairs (c.938_945delTAAAATTT, p.Leu313Serfs13*) in exon 9 of the PROS1 gene in patient 1 and a missense variant (c.1613C>T, p.Ser538Phe) in patient 2. Due to the clinically proven history of recurrent VTE events in both patients, genetic testing of first-degree relatives is discussed.
Identifiants
pubmed: 32653888
pii: 000508525
doi: 10.1159/000508525
doi:
Substances chimiques
Anticoagulants
0
PROS1 protein, human
0
Protein S
0
Factor V
9001-24-5
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
222-226Informations de copyright
© 2020 S. Karger AG, Basel.