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Sona Nair, Jihong Li, W. Beau Mitchell, Dipika Mohanty, Barry S. Coller, Deborah L. French

Two New 3 Integrin Mutations in Indian Patients with Glanzmann Thrombasthenia: Localization of Mutations Affecting Cysteine Residues in Integrin 3

New mutations in the 3 integrin subunit have been identified in two unrelated Glanzmann thrombasthenia patients originating from India and Bangladesh. Both patients had histories of excessive bleeding and were found to have Glanzmann thrombasthenia based on absent ADP-induced platelet aggregation. Immunoblotting of platelet lysates of Patient 1 demonstrated reduced levels of IIb and an unexpected high Mr 3 band of 260,000, with little or no normal-sized 3. Upon reduction, a weak 3 band of normal Mr was observed. Platelet lysates of Patient 2 demonstrated undetectable levels of 3. Sequence analyses identified homozygous mutations in the 3 genes of both patients. Patient 1 had a C506Y missense mutation resulting in the expression of an unpaired cysteine; we propose that the Mr 260,000 band is a disulfide-bonded 3 dimer. Patient 2 had an insertion mutation resulting in a frameshift and premature termination. Both mutations affect biogenesis of platelet IIb3 receptors.

Thrombosis and Haemostasis, Schattauer

Print ISSN: 0340-6245
Volume: 88, 01/2002
Pages: 503 - 509

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