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

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 (...

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Bibliographic Details
Published in:Pediatric blood & cancer 2012-08, Vol.59 (2), p.335-338
Main Authors: Park, Kyoung-Jin, Chung, Hae-Sun, Lee, Ki-O, Park, In-Ae, Kim, Sun-Hee, Kim, Hee-Jin
Format: Article
Language:English
Subjects:
Adult
Child
Child, Preschool
Founder Effect
Glanzmann thrombasthenia
Heterozygote
Homozygote
Humans
Integrin alpha2 - genetics
Integrin beta3 - genetics
ITGA2B
ITGB3
Korea
Male
mutation
Mutation - genetics
Thrombasthenia - genetics
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Summary: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. Pediatr Blood Cancer 2012;59:335–338. © 2011 Wiley Periodicals, Inc.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.24041