RGD Reference Report - Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease. - Rat Genome Database

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Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.

Authors: Weening, RS  De Boer, M  Kuijpers, TW  Neefjes, VM  Hack, WW  Roos, D 
Citation: Weening RS, etal., Clin Exp Immunol. 2000 Dec;122(3):410-7.
RGD ID: 11040566
Pubmed: PMID:11122248   (View Abstract at PubMed)
PMCID: PMC1905790   (View Article at PubMed Central)

Chronic granulomatous disease (CGD) is a clinical syndrome of recurrent bacterial and fungal infections caused by a rare disorder of phagocytic cells. In CGD, the phagocytes are unable to generate oxygen radicals after stimulation of these cells, due to a defect in the NADPH oxidase system. This NADPH oxidase is a multicomponent enzyme of at least four subunits, of which the beta-subunit of cytochrome b558, gp91-phox, is encoded by an X-linked gene (called CYBB). We report here five patients from two families; in each family we found a different mutation in the promoter region of CYBB. Both mutations prevented the expression of gp91-phox in the patients' neutrophils and thus caused inability of these cells to generate oxygen radicals. However, the mutations left the gp91-phox expression and the function of the NADPH oxidase in the patients' eosinophils intact. The relatively mild course of the CGD in these patients can probably be attributed to the fact that the eosinophils have retained their oxidative capacity. Furthermore, our results indicate that neutrophils and eosinophils differ in their regulation of gp91-phox expression.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chronic granulomatous disease  IAGP 11040566DNA:mutations:promoter:RGD 
chronic granulomatous disease  ISOCYBB (Homo sapiens)11040566; 11040566DNA:mutations:promoter:RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Impaired oxidative burst  IAGP 11040566DNA:mutations:promoter:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cybb  (cytochrome b-245 beta chain)

Genes (Mus musculus)
Cybb  (cytochrome b-245, beta polypeptide)

Genes (Homo sapiens)
CYBB  (cytochrome b-245 beta chain)


Additional Information