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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

Authors: Pizzuti, A  Sarkozy, A  Newton, AL  Conti, E  Flex, E  Digilio, MC  Amati, F  Gianni, D  Tandoi, C  Marino, B  Crossley, M  Dallapiccola, B 
Citation: Pizzuti A, etal., Hum Mutat. 2003 Nov;22(5):372-7.
Pubmed: (View Article at PubMed) PMID:14517948
DOI: Full-text: DOI:10.1002/humu.10261

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 TOF. 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. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.

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CRRD Object Information
CRRD ID: 1580641
Created: 2006-08-18
Species: All species
Last Modified: 2006-08-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.