RGD Reference Report - Congenital heart disease caused by mutations in the transcription factor NKX2-5. - Rat Genome Database

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Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Authors: Schott, JJ  Benson, DW  Basson, CT  Pease, W  Silberbach, GM  Moak, JP  Maron, BJ  Seidman, CE  Seidman, JG 
Citation: Schott JJ, etal., Science. 1998 Jul 3;281(5373):108-11.
RGD ID: 1580253
Pubmed: PMID:9651244   (View Abstract at PubMed)

Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5, a Drosophila tinman homolog, is located. Three different NKX2-5 mutations were identified. Two are predicted to impair binding of NKX2-5 to target DNA, resulting in haploinsufficiency, and a third potentially augments target-DNA binding. These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
congenital heart disease  IAGP 1580253DNA:missense mutation more ...RGD 
congenital heart disease  ISONKX2-5 (Homo sapiens)1580253; 1580253DNA:missense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nkx2-5  (NK2 homeobox 5)

Genes (Mus musculus)
Nkx2-5  (NK2 homeobox 5)

Genes (Homo sapiens)
NKX2-5  (NK2 homeobox 5)


Additional Information