Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome

被引：27

作者：

Rivera, CE ^{[1
]}

Villagra, J ^{[1
]}

Riordan, M ^{[1
]}

Williams, S ^{[1
]}

Lindstrom, KJ ^{[1
]}

Rick, ME ^{[1
]}

机构：

[1] NIH, Warren Grant Magnuson Clin Ctr, Dept Lab Med, Hematol Serv, Bethesda, MD 20892 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 112卷 / 01期

关键词：

Bernard-Soulier syndrome; GPIX; mutation; bleeding; thombocytopenia;

D O I：

10.1046/j.1365-2141.2001.02529.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a new mutation in glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome (BSS). Sequencing of GPIX revealed a homozygous (T -->C) transition at nucleotide 1717 (GenBank/HUMGPIX/M80478), resulting in a Cys(8) (TGT)--> Arg (CGT) replacement in the mature peptide. DNA restriction enzyme analysis using BsaAI revealed that the patient was homozygous and that his parents were heterozygous for the defect. This mutation disrupts a putative disulphide bond between the Cys(8) and Cys(12) that would alter the secondary structure of GPIX and which probably accounts for the absence of the GPIb/IX/V complex from the platelet surface in this patient.

引用

页码：105 / 108

页数：4

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