PortalPublikationenTwo Novel Variants in the Protein S Gene PROS1 Are Associate...

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia

Standard

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia. / Juhl, David; Kuta, Piotr; Shneyder, Maria; Wünsche, Falko; Nowak-Göttl, Ulrike.

in: ACTA HAEMATOL-BASEL, Jahrgang 144, Nr. 2, 2021, S. 222-226.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Juhl, D, Kuta, P, Shneyder, M, Wünsche, F & Nowak-Göttl, U 2021, 'Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia', ACTA HAEMATOL-BASEL, Jg. 144, Nr. 2, S. 222-226. https://doi.org/10.1159/000508525

APA

Juhl, D., Kuta, P., Shneyder, M., Wünsche, F., & Nowak-Göttl, U. (2021). Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia. ACTA HAEMATOL-BASEL, 144(2), 222-226. https://doi.org/10.1159/000508525

Vancouver

Juhl D, Kuta P, Shneyder M, Wünsche F, Nowak-Göttl U. Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia. ACTA HAEMATOL-BASEL. 2021;144(2):222-226. https://doi.org/10.1159/000508525

Bibtex

@article{8bef00958346489ba757399a42afe8cf,
title = "Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia",
abstract = "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.",
keywords = "Anticoagulants/therapeutic use, Exons, Factor V/genetics, Female, Gene Deletion, Heterozygote, Homozygote, Humans, Middle Aged, Mutation, Missense, Polymorphism, Single Nucleotide, Protein S/genetics, Protein S Deficiency/complications, Venous Thromboembolism/diagnosis",
author = "David Juhl and Piotr Kuta and Maria Shneyder and Falko W{\"u}nsche and Ulrike Nowak-G{\"o}ttl",
note = "{\textcopyright} 2020 S. Karger AG, Basel.",
year = "2021",
doi = "10.1159/000508525",
language = "English",
volume = "144",
pages = "222--226",
journal = "ACTA HAEMATOL-BASEL",
issn = "0001-5792",
publisher = "S. Karger AG",
number = "2",

}

RIS

TY - JOUR

T1 - Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia

AU - Juhl, David

AU - Kuta, Piotr

AU - Shneyder, Maria

AU - Wünsche, Falko

AU - Nowak-Göttl, Ulrike

N1 - © 2020 S. Karger AG, Basel.

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - Anticoagulants/therapeutic use

KW - Exons

KW - Factor V/genetics

KW - Female

KW - Gene Deletion

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Middle Aged

KW - Mutation, Missense

KW - Polymorphism, Single Nucleotide

KW - Protein S/genetics

KW - Protein S Deficiency/complications

KW - Venous Thromboembolism/diagnosis

U2 - 10.1159/000508525

DO - 10.1159/000508525

M3 - SCORING: Journal article

C2 - 32653888

VL - 144

SP - 222

EP - 226

JO - ACTA HAEMATOL-BASEL

JF - ACTA HAEMATOL-BASEL

SN - 0001-5792

IS - 2

ER -