Molecular Study of Glanzmann Thrombasthenia in 3 Patients Issued from 2 Different Families

C Vinciguerra; M C Trzeciak; N Philippe; D Frappaz; J Reynaud; M Dechavanne; C Negrier

doi:10.1055/s-0038-1649830

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1995; 74(03): 822-827
DOI: 10.1055/s-0038-1649830

Original Article

Clinical Studies

Schattauer GmbH Stuttgart

Molecular Study of Glanzmann Thrombasthenia in 3 Patients Issued from 2 Different Families

C Vinciguerra

¹The Laboratoire d’Hémobiologie, Institut Pasteur, INSERM U331, Lyon, France

,

M C Trzeciak

¹The Laboratoire d’Hémobiologie, Institut Pasteur, INSERM U331, Lyon, France

,

N Philippe

²The Hôpital Debrousse, Lyon, France

,

D Frappaz

³The Hôpital Nord, Saint Etienne, France

,

J Reynaud

³The Hôpital Nord, Saint Etienne, France

,

M Dechavanne

¹The Laboratoire d’Hémobiologie, Institut Pasteur, INSERM U331, Lyon, France

,

C Negrier

¹The Laboratoire d’Hémobiologie, Institut Pasteur, INSERM U331, Lyon, France

› Author Affiliations

Abstract

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Summary

In an effort to further understand Glanzmann thrombasthenia (GT) 3 patients from 2 different families were studied. After biochemical and immunological analysis these patients were classified as type I. We observed in the first family a new restriction site for Stu I in exon II of the glycoprotein (GP) Ilia gene caused by a homozygous nonsense mutation: 62 Arg to stop codon. The parents were heterozygotes for this mutation. We found in the second family a previously described nonsense mutation: 584 Arg to stop codon in exon 17 of the GPIIb gene. The father and his two affected sons were heterozygous for this genetic defect. This mutation 62 Arg to stop codon is a new description of a genetic defect associated with GT. Furthermore, the discovery of the same mutation in 3 affected families from different ethnic groups raises the possibility of either a hot spot mutation in the CG dinucleotide region of GPIIb gene, or an ancient mutant allele present in diffuse populations at a relatively high frequency

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References

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