An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

UMMS Affiliation

Department of Pediatrics

Publication Date


Document Type



B-Lymphocytes; Exons; Granulomatous Disease, Chronic; Humans; Infant; Introns; Male; Membrane Glycoproteins; *Mutation; NADPH Oxidase; Polymorphism, Single-Stranded Conformational; *RNA Splice Sites; RNA, Messenger; Reverse Transcriptase Polymerase Chain Reaction; Transcription, Genetic


Hematology | Oncology | Pediatrics


The most common, X-linked, form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene located at Xp21.1. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, which forms the catalytic core of the antimicrobial superoxide-generating enzyme, NADPH oxidase. In the overwhelming majority of cases, mutations are family-specific and occur in the exonic regions of the gene, or more rarely at the intron/exon borders. Alternatively, they are large (often multi-gene) deletions. In addition, four mutations have been found in the promoter region. In contrast, very few intronic mutations have been reported. Here we describe an intronic mutation that causes X-linked CGD. A single nucleotide substitution in the middle of intron V creates a novel 5' splice site and results in multiple abnormal mRNA products.

DOI of Published Version



Biochim Biophys Acta. 2001 Sep 28;1537(2):125-31. doi 10.1016/S0925-4439(01)00065-5

Journal/Book/Conference Title

Biochimica et biophysica acta

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Link to article in PubMed

PubMed ID