title: Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
abstract: One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC).
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Medical Sciences of Tehran University, and Department of Cell and Molecular Biology, Khatam University, Tehran, Iran. teimourian@tums.ac.ir
authors.forename: Shahram
authors.initials: S
authors.lastname: Teimourian
authors.forename: Elham
authors.initials: E
authors.lastname: Zomorodian
authors.forename: Mohsen
authors.initials: M
authors.lastname: Badalzadeh
authors.forename: Alireza
authors.initials: A
authors.lastname: Pouya
authors.forename: Caroline
authors.initials: C
authors.lastname: Kannengiesser
authors.forename: Davood
authors.initials: D
authors.lastname: Mansouri
authors.forename: Taher
authors.initials: T
authors.lastname: Cheraghi
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D009154:Mutation; D009252:NADPH Dehydrogenase / Q000378:metabolism; D019255:NADPH Oxidases / Q000172:deficiency / Q000235:genetics*; D009504:Neutrophils / Q000276:immunology; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D019255:NADPH Oxidases; C086986:CYBA protein, human; D009252:NADPH Dehydrogenase