Genetic analysis of CYBB gene in 26 Korean families with X-linked chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare hereditary disorder that is characterized by a greatly increased susceptibility to life-threatening bacterial and fungal infections. CGD is caused by mutations in any one of the genes encoding subunits of phagocyte NADPH oxidase. X-linked CGD, more than half of all CGD cases, is caused by mutations in CYBB gene encoding gp91-phox subunit. We identified the mutations in the CYBB gene of 29 Korean patients with X-linked CGD from 26 unrelated families. Twenty-three mutations were identified: five splice site mutations (c.45+1G>C, c.141+5G>A, c.897+2T>C c.1461+1G>T, c.1586+2T>A), four frameshift mutations (c.27dupG, [c.737A>C; c.742delA], c.742dupA, c.1636 del C), seven non-sense mutations (c217C>T, c.469C>T, c.676C>T, c.868C>T, c.1222G>T, c.1272G>A, c.1281T>A), five missense mutations (c.164 C>A, c.422T>C, c.665 A>G, c.1012C>T, c.1461G>T) and two gross deletions. Eight out of 23 mutations identified in this study are novel mutations: two splice mutations(c.897+2T>C, c.1586+2T>A), two frame shift mutations ([c.737A>C; c.742delA], c.1636 del C), two nonsense mutations (c.1222G>T, c.1281T>A), one missense mutation (c.1461G>T), one gross deletion (c.1667-1629 del.). Our results confirmed that mutations of CYBB gene in the X-CGD are very heterogeneous and not show the peculiarity of the ethnic group.