A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis
Makaleler > Tam Makale · 2023
Yazarlar: Turkan Turkut Tan, Erhan PARILTAY, Enise Avci Durmusaliogu, Enise Avci Durmusaliogu, Esra IŞIK, Muhsin Özgür ÇOĞULU, Ramazan Kaan KAVAKLI, Tahir ATİK
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2023, cilt 21, ss 2913-2916
DOI: 10.1016/j.jtha.2023.06.029
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.