期刊
HUMAN MUTATION
卷 22, 期 5, 页码 372-377出版社
WILEY-LISS
DOI: 10.1002/humu.10261
关键词
ZFPM2; FOG2; tetralogy of Fallot; TOF; conotruncal heart defect; CTD; GATA4
Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOE While both mutant ZFPM2/ FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM21FOG2 gene mutations may contribute to some sporadic cases of TOF. (C) 2003 Wiley-Liss, Inc.
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