RGD Reference Report - Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. - Rat Genome Database

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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.
RGD ID: 4779762
Pubmed: PMID:18422995   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2141.2008.07148.x   (Journal Full-text)

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).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
phagocyte bactericidal dysfunction  IAGP 4779762DNA:mutations: :multiple (human)RGD 
phagocyte bactericidal dysfunction  ISOCYBA (Homo sapiens)4779762; 4779762DNA:mutations: :multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyba  (cytochrome b-245 alpha chain)

Genes (Mus musculus)
Cyba  (cytochrome b-245, alpha polypeptide)

Genes (Homo sapiens)
CYBA  (cytochrome b-245 alpha chain)


Additional Information