Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.
Chronic 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.
Kim
Young Mee
YM
Department of Biochemistry, Jeju National University School of Medicine, Jeju, Korea.
Park
Ji Eun
JE
Kim
Jin Young
JY
Lim
Hee Kyung
HK
Nam
Jae Kook
JK
Cho
Moonjae
M
Shin
Kyung-Sue
KS
D000293:Adolescent; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005843:Geography; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
D019255:NADPH Oxidases; C086986:CYBA protein, human