TY - JOUR
T1 - Congenital heart disease caused by mutations in the transcription factor NKX2-5
AU - Schott, Jean Jacques
AU - Benson, D. Woodrow
AU - Basson, Craig T.
AU - Pease, William
AU - Silberbach, G. Michael
AU - Moak, Jeffrey P.
AU - Maron, Barry J.
AU - Seidman, Christine E.
AU - Seidman, J. G.
PY - 1998/7/3
Y1 - 1998/7/3
N2 - Mutations in the gene encoding the homebox 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.
AB - Mutations in the gene encoding the homebox 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.
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U2 - 10.1126/science.281.5373.108
DO - 10.1126/science.281.5373.108
M3 - Article
C2 - 9651244
AN - SCOPUS:0032479573
SN - 0036-8075
VL - 281
SP - 108
EP - 111
JO - Science
JF - Science
IS - 5373
ER -