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    Br J Haematol. 2008 Jun;141(6):848-51. Epub 2008 Apr 18.

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

    Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, Cheraghi T, Parvaneh N.

    Source

    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

    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).

    PMID:
    18422995
    [PubMed - indexed for MEDLINE]

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