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Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

Authors: Teimourian, S  Zomorodian, E  Badalzadeh, M  Pouya, A  Kannengiesser, C  Mansouri, D  Cheraghi, T  Parvaneh, N 
Citation: Teimourian S, etal., Br J Haematol. 2008 Jun;141(6):848-51. Epub 2008 Apr 18.
Pubmed: (View Article at PubMed) PMID:18422995
DOI: Full-text: DOI:10.1111/j.1365-2141.2008.07148.x

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).

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RGD Object Information
RGD ID: 4779762
Created: 2010-11-17
Species: All species
Last Modified: 2010-11-17
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.