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.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Animals
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Mice
  • Molecular Sequence Data
  • Mutation, Missense*
  • NIH 3T3 Cells
  • Tetralogy of Fallot / genetics*
  • Tetralogy of Fallot / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • ZFPM2 protein, human
  • Zfpm2 protein, mouse