title: Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
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.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea.
authors.forename: Kyoung-Jin
authors.initials: KJ
authors.lastname: Park
authors.forename: Hae-Sun
authors.initials: HS
authors.lastname: Chung
authors.forename: Ki-O
authors.initials: KO
authors.lastname: Lee
authors.forename: In-Ae
authors.initials: IA
authors.lastname: Park
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D018703:Founder Effect; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D039421:Integrin alpha2 / Q000235:genetics*; D039661:Integrin beta3 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: C056564:ITGA2B protein, human; C061248:ITGB3 protein, human; D039421:Integrin alpha2; D039661:Integrin beta3