Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia
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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, Vol. 144, No. 2, 2021, p. 222-226.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -