Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal

Glazzmann thrombasthenia is an inherited bleeding syndrome in which an absence of platelet aggregation is associated with quantitative or qualitative deficiencies of the alphaIIbbeta3 integrin. We now describe biochemical and molecular studies on two Portuguese families where platelets lack both sur...

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Bibliographic Details
Published in:	Platelets (Edinburgh) Vol. 15; no. 1; pp. 15 - 22
Main Authors:	Garcia, Loida Corbillon, Breillat, Christelle, Lima, Margarida, Combrié, Robert, Morais, Sara, Teixera, Maria dos Anjos, Campos, Manuel, Justica, Benvindo, Nurden, Alan T
Format:	Journal Article
Language:	English
Published:	England 01-02-2004
Subjects:	Adolescent Adult Antigens, CD - analysis Blood Platelets - chemistry Blotting, Western Codon, Nonsense - genetics DNA Mutational Analysis Exons - genetics Family Health Female Flow Cytometry Glycoproteins - analysis Homozygote Humans Mutation Pedigree Platelet Glycoprotein GPIIb-IIIa Complex - analysis Platelet Glycoprotein GPIIb-IIIa Complex - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Portugal Thrombasthenia - diagnosis Thrombasthenia - genetics Portugal
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Summary:	Glazzmann thrombasthenia is an inherited bleeding syndrome in which an absence of platelet aggregation is associated with quantitative or qualitative deficiencies of the alphaIIbbeta3 integrin. We now describe biochemical and molecular studies on two Portuguese families where platelets lack both surface and intracellular pools of alphaIIbbeta3. DNA extraction was followed by PCR-SSCP analysis of all exons and intronic boundaries in the alphaIIb and beta3 genes. Migration abnormalities were found for PCR fragments encompassing exon 12 (family 1) and exon 10 (family 2). For patient 1, there was a homozygous G to T transition at position 1846 which resulted in a stop codon at codon 616 in the beta3 gene. For patient 2, direct sequencing revealed a homozygous 1347C insert which led to a stop codon at codon 444 in the beta3 gene. For both patients a single mutated allele was inherited from each parent. Evidence is accumulating that nonsense mutations leading to a truncated beta3 may be a frequent cause of type I Glanzmann thrombasthenia in the Iberian peninsula.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0953-7104