Lack of MEF2A mutations in coronary artery disease

J Clin Invest. 2005 Apr;115(4):1016-20. doi: 10.1172/JCI24186.


Mutations in MEF2A have been implicated in an autosomal dominant form of coronary artery disease (adCAD1). In this study we sought to determine whether severe mutations in MEF2A might also explain sporadic cases of coronary artery disease (CAD). To do this, we resequenced the coding sequence and splice sites of MEF2A in approximately 300 patients with premature CAD and failed to find causative mutations in the CAD cohort. However, we did identify the 21-bp MEF2A coding sequence deletion originally implicated in adCAD1 in 1 of 300 elderly control subjects without CAD. Further screening of approximately 1,500 additional individuals without CAD revealed 2 more subjects with the MEF2A 21-bp deletion. Genotyping of 19 family members of the 3 probands with the 21-bp deletion in MEF2A revealed that the mutation did not cosegregate with early CAD. These studies support that MEF2A mutations are not a common cause of CAD in white people and argue strongly against a role for the MEF2A 21-bp deletion in autosomal dominant CAD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Coronary Artery Disease / genetics*
  • Coronary Artery Disease / metabolism
  • DNA Mutational Analysis*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Exons
  • Female
  • Humans
  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Myogenic Regulatory Factors
  • Pedigree
  • Polymorphism, Genetic
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • White People / genetics


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