Br J Haematol. 2001 Jan;112(1):105-8.

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

Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME.

Source

Hematology Service, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. cr86t@nih.gov

Abstract

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.

PMID:: 11167791; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Secondary Source ID

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Case Reports

MeSH Terms

Substances

Platelet Glycoprotein GPIb-IX Complex

Secondary Source ID

GENBANK/M80478

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Cited by 3 PubMed Central articles

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. [Haematologica. 2011]
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Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, et al. Haematologica. 2011 Mar; 96(3):417-23. Epub 2010 Dec 20.
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Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient...
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.
Br J Haematol. 2001 Jan ;112(1):105-8.

PubMed
Genetic abnormalities of Bernard-Soulier syndrome.
Genetic abnormalities of Bernard-Soulier syndrome.
Int J Hematol. 2002 Nov ;76(4):319-27.

PubMed
Isolation and characterization of human platelet glycoprotein IX.
Isolation and characterization of human platelet glycoprotein IX.
Biochem Biophys Res Commun. 1988 Oct 31 ;156(2):931-9.

PubMed
Characterization of the gene encoding human platelet glycoprotein IX.
Characterization of the gene encoding human platelet glycoprotein IX.
J Biol Chem. 1993 Feb 15 ;268(5):3438-43.

PubMed
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein I...
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
Br J Haematol. 1997 May ;97(2):312-20.

PubMed

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