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

Abstract

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.