CYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease

In this study, we report a mutation in cybb gene in a patient with x-cgd(diagnosed on the base of family history, nut test, dhr 123 assay). mutation incybb gene was detected using sscp analysis (single-strand conformationpolymorphism) followed by sequencing. during screening for mutations in the cybbgene we observed 880 c~t in exon 8. this mutation resulted in 290 arg-o stop. wealso observed a change (-270 c ~ a) in the promoter region which needs furtherinvestigation.we would like to pursue this study by analyzing more x-cgd patients to find outthe cybb mutation spectrum in iranian patients.