Glanzmann’s Thrombasthenia: Identification of 19 New Mutations in 30 Patients

Giovanna D’Andrea; Donatella Colaizzo; Gennaro Vecchione; Elvira Grandone; Giovanni Di Minno; Maurizio Margaglione; the GLAnzmann’s Thrombasthenia Italian Team (GLATIT); on behalf of

doi:10.1055/s-0037-1613129

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2002; 87(06): 1034-1042
DOI: 10.1055/s-0037-1613129

Review Article

Schattauer GmbH

Glanzmann’s Thrombasthenia: Identification of 19 New Mutations in 30 Patients

Giovanna D’Andrea

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

Donatella Colaizzo

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

Gennaro Vecchione

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

Elvira Grandone

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

Giovanni Di Minno

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

Maurizio Margaglione

¹Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo; Genetica Medica, Università di Foggia; and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy

,

the GLAnzmann’s Thrombasthenia Italian Team (GLATIT)

› Author Affiliations

Abstract

Summary

Glanzmann’s thrombasthenia (GT) is a genetically heterogeneous autosomal recessive syndrome associated with a bleeding tendency. To elucidate molecular basis of GT we have screened for mutations 30 GT patients. On the whole, 21 different candidate causal mutations, 17 in the α_IIb and 4 in the β₃ gene have been found. Only two (α_IIb Pro145Ala and IVS3(−3)-418del) have been previously reported. Nine mutations (42.9%) were likely to produce truncated proteins, whereas the remaining 12 were missense mutations that affected highly conserved residues in α_IIb and β₃ genes. Six mutations were found in different patients suggesting a possible founder effect. The wide spectrum of expressivity, ranging from mild to severe also among patients carrying the same mutations, provided evidence for a role of different loci or circumstantial factors. In conclusion, we have identified a spectrum of unreported mutations that may be of value to unravel the role of specific regions of α_IIb and β₃ genes.

Keywords

Glanzmann’s Thrombasthenia - α_IIb and β₃ genes - mutations

Full Text

References

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