Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava.

Autor: Iversen N; Department of Medical Genetics, Oslo University Hospital, Oslo, BOX 4950 Nydalen, N-0424, Norway., Henriksson CE; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Sletten M; Department of Medical Genetics, Oslo University Hospital, Oslo, BOX 4950 Nydalen, N-0424, Norway., Le MS; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Lindberg BR; Department of Cardiothoracic Surgery, Oslo University Hospital, Oslo, Norway., Andersen R; Department of Radiology, Oslo University Hospital, Oslo, Norway., Paus B; Department of Medical Genetics, Oslo University Hospital, Oslo, BOX 4950 Nydalen, N-0424, Norway. benedicte.paus@medisin.uio.no.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway. benedicte.paus@medisin.uio.no.
Jazyk: angličtina
Zdroj: Thrombosis journal [Thromb J] 2024 Aug 12; Vol. 22 (1), pp. 75. Date of Electronic Publication: 2024 Aug 12.
DOI: 10.1186/s12959-024-00644-1
Abstrakt: Background: Atresia of the infrarenal inferior vena cava (IVC) is associated with thrombophilia and antithrombin (AT) deficiency (ATD) due to homozygosity for the so-called Budapest 3 variant, c.391C > T, in the gene, SERPINC1.
Case Presentation: We report on a father and his two sons that had severe thrombosis at a young age. One son had absence of, and the other had very gracile infrarenal IVC. The father had gracile vena iliaca. All had significant collateral building. AT activity was determined with four different methods and varied between moderately reduced and borderline normal values, depending on the method. While all were heterozygous for c.391C > T, the father was also heterozygous for a variant of uncertain significance in SERPINC1.
Conclusions: The findings support the association between c.391C > T in SERPINC1, thrombophilia, and atresia of the IVC system and indicate that even heterozygosity for c.391C > T may contribute to such anomalies. ATD detection was hampered by the varying sensitivity of methods used for AT activity measurement.
(© 2024. The Author(s).)
Databáze: MEDLINE
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