Dağistan Necati, Kunishima Shinji
Department of Hematology, Gölcük Military Hospital, Gölcük, Turkey.
Acta Haematol. 2007;118(3):146-8. doi: 10.1159/000107926. Epub 2007 Sep 5.
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder characterized by giant platelets, thrombocytopenia, and a prolonged bleeding time. It is caused by homozygous defects in the glycoprotein (GP) Ib/IX/V complex, which is the receptor for the von Willebrand factor. We examined a Turkish patient with suspected BSS to identify a molecular basis. Flow cytometric analysis revealed that platelet GPIb alpha and GPIX expression was markedly reduced and DNA sequence analysis showed a homozygous N45S missense mutation in the GPIX gene. Haplotype analysis revealed that the family had the same disease haplotype associated with the GPIX N45S commonly found in Northern European BSS. This is the first non-Caucasian Turkish BSS case due to GPIX N45S and is likely the result of a recurrent mutational event.
伯纳德-索利尔综合征（BSS）是一种罕见的出血性疾病，其特征为巨大血小板、血小板减少和出血时间延长。它由糖蛋白（GP）Ib/IX/V复合物的纯合缺陷引起，该复合物是血管性血友病因子的受体。我们检查了一名疑似患有BSS的土耳其患者，以确定其分子基础。流式细胞术分析显示血小板糖蛋白Ibα和糖蛋白IX的表达明显降低，DNA序列分析显示糖蛋白IX基因存在纯合N45S错义突变。单倍型分析表明，该家族具有与北欧BSS中常见的糖蛋白IX N45S相关的相同疾病单倍型。这是首例因糖蛋白IX N45S导致的非高加索土耳其BSS病例，可能是反复发生的突变事件所致。
