一种导致遗传性I型抗凝血酶缺乏症的新型移码突变。
A novel frameshift mutation leading to inherited type I antithrombin deficiency.
作者信息
Mori Saaya, Yamanouchi Jun, Okamoto Koji, Hato Takaaki, Yasukawa Masaki
机构信息
aDepartment of Hematology Clinical Immunology and Infectious Diseases bDivision of Laboratory Medicine cDivision of Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
出版信息
Blood Coagul Fibrinolysis. 2017 Mar;28(2):189-192. doi: 10.1097/MBC.0000000000000555.
Inherited antithrombin (AT) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I AT deficiency and identified the mutation responsible; a novel 5406delA mutation in the SERPINC1 gene appeared to have caused a frameshift with premature termination at amino acid +283. The recombinant AT protein including 5406delA was not detected in cell lysates or culture supernatants. These results will contribute to the creation of an accurate database and define the molecular basis for AT deficiency.
遗传性抗凝血酶（AT）缺乏症是一种常染色体显性血栓形成性疾病。我们遇到了一例遗传性I型AT缺乏症病例，并确定了致病突变；SERPINC1基因中一个新的5406delA突变似乎导致了移码，在第283位氨基酸处提前终止。在细胞裂解物或培养上清液中未检测到包含5406delA的重组AT蛋白。这些结果将有助于建立准确的数据库，并确定AT缺乏症的分子基础。
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