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

Hum Mutat. 2003 Nov;22(5):372-7. doi: 10.1002/humu.10261.

Antonio Pizzuti ¹, Anna Sarkozy, Anthea L Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley, Bruno Dallapiccola

Affiliations

Affiliation

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

PMID: 14517948 DOI: 10.1002/humu.10261

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.

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