Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia

Kyoung Jin Park, Hae Sun Chung, Ki O. Lee, In Ae Park, Sun Hee Kim, Hee Jin Kim

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder caused by defective glycoprotein, αIIb and β3, encoded by ITGA2B and ITGB3 genes, respectively. We herein describe four unrelated Korean patients with genetically confirmed GT. Two patients were homozygous for c.1913+5G>T (IVS11+5G>T) mutation of ITGB3 with a signature of founder effect. The other two patients were compound heterozygous for two mutations of ITGA2B: c.[2333A>C];[2975delA] (p.[Q778P];[E992Gfs*30]) and c.[1750C>T];[2333A>C] (p.[R584X];[Q778P]). The c.2975delA mutation was a novel frameshift mutation of ITGA2B. Although from a limited number of patients, these results suggests c.1913+5G>T of ITGB3 is a recurrent mutation in Korean patients with GT.

Original languageEnglish
Pages (from-to)335-338
Number of pages4
JournalPediatric Blood and Cancer
Volume59
Issue number2
DOIs
StatePublished - Aug 2012

Keywords

  • Founder effect
  • Glanzmann thrombasthenia
  • ITGA2B
  • ITGB3
  • Korea
  • Mutation

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