Identification of novel mutations in three Korean families with X-linked chronic granulomatous disease

Abstract

Chronic granulomatous disease (CGD) is a rare hereditary disorder due to defective activity of phagocytic NADPH oxidase. Defects in @p91-phox subunit of cytochrome b558 give rise to X-linked CGD, which caused by mutations in the CYBB gene on Xp21.1. Although approximately 300 different mutations of the CYBB gene have been identified, the distribution of mutations within CYBB gene shows a great heterogeneity. The mutations in the CYBB gene of four Korean patients. with X-linked CGD from three unrelated families were identified in this study. Mutations were screened by single-strand conformation polymorphism (SSCP) and then confinned by sequence analysis. Three different mutations were identified: one missense mutations (G1473 →T), one nonsense mutations (G1235 → T), and a splice site mutation at intron 11 resulting in the whole absence of exon 11 (5'gt → tt). These mutations are novel mutations. In this study, mutations of the X-linked CGD are very heterogeneous and do not have the peculiarity of the ethnic group.