Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1537, Issue 2, Pages 125-131Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/S0925-4439(01)00065-5
Keywords
chronic granulomatous disease; CYBB; flavocytochrome b(558); Gp91(phox); intronic mutation; NADPH oxidase
Funding
- NCI NIH HHS [CA 68276] Funding Source: Medline
- NIAID NIH HHS [AI 24838] Funding Source: Medline
- NIDDK NIH HHS [DK 54369] Funding Source: Medline
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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 b(558), gp91(phox), 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. (C) 2001 Elsevier Science B.V. All rights reserved.
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