title: Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families.
abstract: 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) IIIa 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.
authors.affiliation: Laboratoire d'Hémobiologie, Institut Pasteur, INSERM U331, Lyon, France.
authors.forename: C
authors.initials: C
authors.lastname: Vinciguerra
authors.forename: M C
authors.initials: MC
authors.lastname: Trzeciak
authors.forename: N
authors.initials: N
authors.lastname: Philippe
authors.forename: D
authors.initials: D
authors.lastname: Frappaz
authors.forename: J
authors.initials: J
authors.lastname: Reynaud
authors.forename: M
authors.initials: M
authors.lastname: Dechavanne
authors.forename: C
authors.initials: C
authors.lastname: Negrier
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005434:Flow Cytometry; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: D010980:Platelet Membrane Glycoproteins