Homozygosity for the Protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors

Yolanda Espinosa-Parrilla, Gemma Navarro, Marta Morell, Eugènia Abella, Xavier P. Estivill, Núria Sala

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

The multifactorial character of thrombotic disease is shown in a Spanish pedigree in which the propositus, with recurrent deep vein thrombosis, inherited the factor V R/Q506 mutation, the prothrombin 20210G/A variant and type III Protein S deficiency. Among 14 relatives carrying one or two of these three risk factors, thrombosis is present in a heterozygote for R/Q506 and in another for 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was also found in a young asymptomatic woman. PROS1 analysis showed coexistence of type III and type I PS deficiency to be associated with heterozygosity and homozygosity, respectively, for the P460 or PS Heerlen allele of the S/P460 variant. Analysis of PS values in this and other pedigrees segregating this variant revealed that not only free but also mean total PS levels are slightly but significantly lower in the SP460 heterozygotes than in the 55460 homozygotes. These findings strongly suggest a role of the P460 variant in the expression of the PS deficient phenotype.

Original languageEnglish
Pages (from-to)102-106
Number of pages5
JournalThrombosis and Haemostasis
Volume83
Issue number1
Publication statusPublished - 2000
Externally publishedYes

Fingerprint

Pedigree
Heterozygote
Alleles
Protein S Deficiency
Antiphospholipid Antibodies
Factor V
Homozygote
Prothrombin
Venous Thrombosis
Thrombosis
Phenotype
Mutation
protein S Heerlen

Keywords

  • Factor V R/Q506
  • PROS1 S/P460
  • Prothrombin 20210G/A
  • PS deficiency
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology

Cite this

Homozygosity for the Protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors. / Espinosa-Parrilla, Yolanda; Navarro, Gemma; Morell, Marta; Abella, Eugènia; Estivill, Xavier P.; Sala, Núria.

In: Thrombosis and Haemostasis, Vol. 83, No. 1, 2000, p. 102-106.

Research output: Contribution to journalArticle

Espinosa-Parrilla, Yolanda ; Navarro, Gemma ; Morell, Marta ; Abella, Eugènia ; Estivill, Xavier P. ; Sala, Núria. / Homozygosity for the Protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors. In: Thrombosis and Haemostasis. 2000 ; Vol. 83, No. 1. pp. 102-106.
@article{9ddbe2f4efff40d6aea96d3fada72258,
title = "Homozygosity for the Protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors",
abstract = "The multifactorial character of thrombotic disease is shown in a Spanish pedigree in which the propositus, with recurrent deep vein thrombosis, inherited the factor V R/Q506 mutation, the prothrombin 20210G/A variant and type III Protein S deficiency. Among 14 relatives carrying one or two of these three risk factors, thrombosis is present in a heterozygote for R/Q506 and in another for 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was also found in a young asymptomatic woman. PROS1 analysis showed coexistence of type III and type I PS deficiency to be associated with heterozygosity and homozygosity, respectively, for the P460 or PS Heerlen allele of the S/P460 variant. Analysis of PS values in this and other pedigrees segregating this variant revealed that not only free but also mean total PS levels are slightly but significantly lower in the SP460 heterozygotes than in the 55460 homozygotes. These findings strongly suggest a role of the P460 variant in the expression of the PS deficient phenotype.",
keywords = "Factor V R/Q506, PROS1 S/P460, Prothrombin 20210G/A, PS deficiency, Thrombophilia",
author = "Yolanda Espinosa-Parrilla and Gemma Navarro and Marta Morell and Eug{\`e}nia Abella and Estivill, {Xavier P.} and N{\'u}ria Sala",
year = "2000",
language = "English",
volume = "83",
pages = "102--106",
journal = "Thrombosis and Haemostasis",
issn = "0340-6245",
publisher = "Schattauer GmbH",
number = "1",

}

TY - JOUR

T1 - Homozygosity for the Protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors

AU - Espinosa-Parrilla, Yolanda

AU - Navarro, Gemma

AU - Morell, Marta

AU - Abella, Eugènia

AU - Estivill, Xavier P.

AU - Sala, Núria

PY - 2000

Y1 - 2000

N2 - The multifactorial character of thrombotic disease is shown in a Spanish pedigree in which the propositus, with recurrent deep vein thrombosis, inherited the factor V R/Q506 mutation, the prothrombin 20210G/A variant and type III Protein S deficiency. Among 14 relatives carrying one or two of these three risk factors, thrombosis is present in a heterozygote for R/Q506 and in another for 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was also found in a young asymptomatic woman. PROS1 analysis showed coexistence of type III and type I PS deficiency to be associated with heterozygosity and homozygosity, respectively, for the P460 or PS Heerlen allele of the S/P460 variant. Analysis of PS values in this and other pedigrees segregating this variant revealed that not only free but also mean total PS levels are slightly but significantly lower in the SP460 heterozygotes than in the 55460 homozygotes. These findings strongly suggest a role of the P460 variant in the expression of the PS deficient phenotype.

AB - The multifactorial character of thrombotic disease is shown in a Spanish pedigree in which the propositus, with recurrent deep vein thrombosis, inherited the factor V R/Q506 mutation, the prothrombin 20210G/A variant and type III Protein S deficiency. Among 14 relatives carrying one or two of these three risk factors, thrombosis is present in a heterozygote for R/Q506 and in another for 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was also found in a young asymptomatic woman. PROS1 analysis showed coexistence of type III and type I PS deficiency to be associated with heterozygosity and homozygosity, respectively, for the P460 or PS Heerlen allele of the S/P460 variant. Analysis of PS values in this and other pedigrees segregating this variant revealed that not only free but also mean total PS levels are slightly but significantly lower in the SP460 heterozygotes than in the 55460 homozygotes. These findings strongly suggest a role of the P460 variant in the expression of the PS deficient phenotype.

KW - Factor V R/Q506

KW - PROS1 S/P460

KW - Prothrombin 20210G/A

KW - PS deficiency

KW - Thrombophilia

UR - http://www.scopus.com/inward/record.url?scp=0033971891&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033971891&partnerID=8YFLogxK

M3 - Article

VL - 83

SP - 102

EP - 106

JO - Thrombosis and Haemostasis

JF - Thrombosis and Haemostasis

SN - 0340-6245

IS - 1

ER -