Antithrombin gene Arg197Stop mutation-associated venous sinus thrombosis in a Chinese family

作者：Li, Ang; Liu, Tianhui; Liu, Zhandong^*; Li, Jimei; Zhang, Chunling; Chen, Jun; Sun, Jinmei; Han, Yanfei; Wang, Lili; Wang, Dexin; Xue, Qiming; Wang, Baoen

来源：Neural Regeneration Research, 2011, 6(20): 1575-1579.

DOI：10.3969/j.issn.1673-5374.2011.20.010

• antithrombin
• cerebral venous sinus thrombosis
• intracranial hypotension
• nonsense mutation
• brain edema

This study sought to elucidate the genetic correlation of cerebral venous sinus thrombosis caused by a hereditary antithrombin deficiency in a Chinese family, at the genetic and protein levels. A nonsense mutation from C to T on locus 6431 in exon 3B of the antithrombin gene was observed, leading to an arginine (CGA) to stop codon (TGA) change in the protein. This is the first report of this mutation in China. Ineffective heparin therapy in the propositus patient is associated with a lack of heparin binding sites after antithrombin gene mutation. Characteristic low intracranial pressure in the acute phase might be specific to this patient with cerebral venous sinus thrombosis.

• 出版日期2011-7
• 单位首都医科大学