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Hum Mutat. 2003 Nov;22(5):372-7.

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

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  • 1Dipartimento di Medicina Sperimentale e Patologia, Universit√† di Roma La Sapienza, Rome, Italy. a.pizzuti@css-mendel.it

Abstract

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.

Copyright 2003 Wiley-Liss, Inc.

PMID:
14517948
[PubMed - indexed for MEDLINE]
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