Exon 11 deletion in the myocyte enhancer factor (MEF)2A and early onset coronary artery disease gene in a Sicilian family

Eur J Cardiovasc Prev Rehabil. 2011 Aug;18(4):557-60. doi: 10.1177/1741826710397112. Epub 2011 Mar 10.

Abstract

Aims: We investigated the prevalence of the myocyte enhancer factor (MEF)2A exon 11 deletion, a putative coronary artery disease (CAD) susceptibility gene, in patients referred for coronary angiography.

Methods and results: In total, 1079 consecutive patients referred for coronary angiography in the GENICA Study were genotyped and 301 low-risk subjects were used as controls. One patient with early onset three vessels CAD, carrying the MEF2A deletion was found in the GENICA Study cohort and none in the control group.

Conclusion: In a cohort of patients undergoing coronary angiography for suspected CAD the MEF2A exon 11 deletion occurred in 0.09%.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Case-Control Studies
  • Coronary Angiography
  • Coronary Artery Disease / diagnostic imaging
  • Coronary Artery Disease / epidemiology
  • Coronary Artery Disease / genetics*
  • DNA Mutational Analysis
  • Exons
  • Gene Deletion*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • MADS Domain Proteins / genetics*
  • MEF2 Transcription Factors
  • Male
  • Middle Aged
  • Myogenic Regulatory Factors / genetics*
  • Pedigree
  • Phenotype
  • Prospective Studies
  • Risk Assessment
  • Risk Factors
  • Sicily / epidemiology

Substances

  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • MEF2A protein, human
  • Myogenic Regulatory Factors