Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb

Blood Coagul Fibrinolysis. 1998 Apr;9(3):285-8. doi: 10.1097/00001721-199804000-00011.

Abstract

An A-->G transition in the acceptor splice site at the intron 19/exon 20 junction of the glycoprotein IIb gene was defined as a novel mutation causing Glanzmann thrombasthenia in two Iraqi-Jewish siblings. This mutant DNA was transcribed into four distinct species of mRNA, one of which resulted in a premature termination codon and the other three predicting deletions of 50, 61 or 72 amino acids, respectively.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence
  • Consanguinity
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Introns / genetics
  • Iraq / ethnology
  • Israel
  • Jews / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Platelet Glycoprotein GPIIb-IIIa Complex / genetics*
  • Point Mutation*
  • RNA Splicing*
  • Thrombasthenia / genetics*

Substances

  • Platelet Glycoprotein GPIIb-IIIa Complex