RGD Reference Report - NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. - Rat Genome Database

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NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients.

Authors: Takada, H  Nomura, A  Ishimura, M  Ichiyama, M  Ohga, S  Hara, T 
Citation: Takada H, etal., Clin Genet. 2010 Dec;78(6):575-9. doi: 10.1111/j.1399-0004.2010.01432.x.
RGD ID: 12791269
Pubmed: PMID:20412081   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0004.2010.01432.x   (Journal Full-text)

Behçet's disease is a chronic, relapsing, multisystem inflammatory disease of unknown etiology. Nuclear factor κB (NF-κB) essential modulator (NEMO) that is required for the activation of NF-κB plays an important role in inflammation. To investigate the role of NEMO in the pathogenesis of Behçet's disease, we analyzed NEMO gene and its expression pattern in tissues in a family with Behçet's disease. We found a heterozygous mutation (1217A> T, D406V) in a 6-year-old girl and her mother. Skewed X-chromosome inactivation was not observed in the peripheral blood mononuclear cells as well as in oral and intestinal mucosa of the patients. Accordingly, there was a significant proportion of peripheral blood monocytes that did not produce sufficient intracellular tumor necrosis factor-α with the stimulation of lipopolysaccharide. Heterozygous NEMO mutation is a cause of familial occurrence of Behçet's disease in female patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease  IAGP 12791269DNA:missense mutation:cds:1217A>T(D406V)(human)RGD 
Behcet's disease  ISOIKBKG (Homo sapiens)12791269; 12791269DNA:missense mutation:cds:1217A>T(D406V)(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ikbkg  (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)

Genes (Mus musculus)
Ikbkg  (inhibitor of kappaB kinase gamma)

Genes (Homo sapiens)
IKBKG  (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)


Additional Information