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, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed a change (-270 c a) in the promoter region which needs further investigation. we would like to pursue this study by analyzing more x-cgd patients to find out the cybb mutation spectrum in iranian patients.