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

作     者：Ang Li Tianhui Liu Zhandong Liu Jimei Li Chunling Zhang Jun Chen Jinmei Sun Yanfei Han Lili Wang Dexin Wang Qiming Xue Baoen Wang 

作者机构：Department of Critical Care Medicine Beijing Friendship Hospital Capital Medical University Beijing 100050 China Liver Research Center Beijing Friendship Hspital Capital Medical University Beijing 100050 China Department of Neurology Health Care Center Beijing Friendship Hospital Capital Medical University Beijing 100050 China Department of Neurology Beijing Friendship Hospital Capital Medical University Beijing 100050 China 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2011年第6卷第20期

页      面：1575-1579页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：the National Natural Science Foundation of China, No. 81041019 the National High-Technology Research and Development Program of China (863 Program), No.2006AA02Z436 

主　　题：antithrombin cerebral venous sinus thrombosis intracranial hypotension nonsense mutation brain edema 

摘      要：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.