Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation
Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation
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DOI：
10.1097/mbc.0b013e3283444ddb
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发表时间：
2011-06-01
影响因子：
1.1
通讯作者：
Iwao, Hiroshi
中科院分区：
文献类型：
--
作者：
Nakao, Takafumi;Yamane, Takahisa;Iwao, Hiroshi
预钾化钙素缺乏症是一种罕见的常染色体隐性疾病，不认为与出血倾向相关，尽管活化部分凝血活素时间明显延长。目前，已知六种预钾likrein基因突变与预钾likrein缺乏有关。在这篇报告中，我们描述了一位特发性血小板减少性紫癜患者，他被认为有严重的钾likrein缺乏症。患者的prekallikrein基因的分子分析显示纯合子Trp499Stop无义突变，以前没有报道过。预计突变等位基因编码一个缺失一半预激肽激酶催化结构域的截断蛋白，表明该截断蛋白导致患者的预激肽激酶激酶缺乏。血液凝固纤维蛋白溶解：337-339 (C) 2011 Wolters Kluwer Health bbb . Lippincott Williams & Wilkins。
Prekallikrein deficiency is a rare autosomal recessive disease not considered to be associated with a tendency for bleeding, despite marked prolongation of activated partial thromboplastin time. Currently, six kinds of mutations in the prekallikrein gene are known to be associated with prekallikrein deficiency. In this report, we describe a patient with idiopathic thrombocytopenic purpura who was recognized to have severe prekallikrein deficiency. Molecular analysis of the patient's prekallikrein gene showed a homozygous Trp499Stop nonsense mutation that has not been reported previously. The mutant allele is predicted to encode a truncated protein lacking half of the catalytic domain of prekallikrein, suggesting that the truncated protein causes prekallikrein deficiency in the patient. Blood Coagul Fibrinolysis 22:337-339 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.