A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier B.V.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Cerebral venous thrombosis (CVT) is a rare cerebrovascular disorder characterized by the obstruction of venous channels in the brain. Genetic factors play a significant role in CVT development, and recent studies have identified gain-of-function mutations in coagulation factors, including factor IX (FIX). This case report focuses on a unique neonatal case of CVT, where an X-chromosome duplication involving the F9 gene resulted in increased FIX activity. The neonate presented with feeding difficulties, weight loss, nystagmus, and seizures. Imaging and laboratory tests confirmed a 554-kb X-chromosome duplication encompassing the F9 gene. This genetic abnormality likely contributed to the elevated FIX activity level and subsequent CVT development. Understanding the relationship between coagulation factor abnormalities and CVT risk expands our knowledge of thrombophilia's genetic basis and may aid in the development of targeted treatment strategies for CVT management. © 2023 International Society on Thrombosis and Haemostasis
Açıklama
Anahtar Kelimeler
cerebral venous thrombosis, elevated factor IX activity, F9 gene duplication, genetic risk factors in thromboembolism, pediatric thrombophilia
Kaynak
Journal of Thrombosis and Haemostasis
WoS Q Değeri
Scopus Q Değeri
Q1
