在一名3型血管性血友病患者中鉴定出两种新突变。

Two novel mutations identified in a type 3 von Willebrand disease patient.

作者信息

Ouyang Wanyan, Yu Ziqiang, Yin Jie, Su Jian, Yang Chunchen, Ruan Changgeng

机构信息

aJiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University bCollaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

出版信息

Blood Coagul Fibrinolysis. 2014 Dec;25(8):909-11. doi: 10.1097/MBC.0000000000000157.

DOI:10.1097/MBC.0000000000000157

PMID:24914743

Abstract

von Willebrand disease (VWD) is the most common inherited bleeding disorder in humans. Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classiﬁed as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD). Type 3 VWD is the most severe type and usually presented with undetectable VWF level. In this report, we describe a type 3 VWD patient. Molecular analysis of the whole VWF gene reveals two novel mutations, c.2480G>A (p.C827Y) in exon 19 and c.3897delT in exon 28.

摘要

血管性血友病（VWD）是人类最常见的遗传性出血性疾病。由血管性血友病因子（VWF）基因突变引起，这些缺陷导致VWF出现质量异常的变体（归类为2型VWD）或VWF水平降低（1型和3型VWD）。3型VWD是最严重的类型，通常表现为VWF水平检测不到。在本报告中，我们描述了一名3型VWD患者。对整个VWF基因的分子分析揭示了两个新的突变，外显子19中的c.2480G>A（p.C827Y）和外显子28中的c.3897delT。