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
  • 1. Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza, Rome, Italy. [email protected]
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.