A novel frameshift mutation leading to inherited type I antithrombin deficiency.
A novel frameshift mutation leading to inherited type I antithrombin deficiency.
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一种新的移码突变导致遗传性 I 型抗凝血酶缺乏症。
DOI：
10.1097/mbc.0000000000000555
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Yasukawa M
中科院分区：
文献类型：
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作者：
Mori S;Yamanouchi J;Okamoto K;Hato T;Yasukawa M
遗传性抗凝血酶(AT)缺乏是一种常染色体显性遗传性血栓性疾病。我们遇到了一例遗传性的I型AT缺乏症，并确定了相关的突变；SERPINC1基因的一个新的5406delA突变似乎导致了移码，并在+283位氨基酸提前终止。在细胞裂解液和培养上清液中均未检测到含有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。
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.