Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
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).
Teimourian
Shahram
S
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
Zomorodian
Elham
E
Badalzadeh
Mohsen
M
Pouya
Alireza
A
Kannengiesser
Caroline
C
Mansouri
Davood
D
Cheraghi
Taher
T
Parvaneh
Nima
N
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
D019255:NADPH Oxidases; C086986:CYBA protein, human; D009252:NADPH Dehydrogenase