• Young Mee Kim, Ji Eun Park, Jin Young Kim, Hee Kyung Lim, Jae Kook Nam, Moonjae Cho, and Kyung-Sue Shin.
• Department of Biochemistry, Jeju National University School of Medicine, Jeju, Korea.
• J. Korean Med. Sci. 2009 Dec 1; 24 (6): 104510501045-50.

AbstractChronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 10 unrelated families and found that all patients had an identical homozygous single-base substitution of C to T in exon 1 (c.7C>T) of the CYBA gene, which was expected to result in a nonsense mutation (p.Q3X). Because Jeju Island has long been a geologically isolated region, the high prevalence of CGD on Jeju Island is presumably associated with an identical mutation inherited from a common ancestor or proband.

27 keywords...

hide…