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Open Access Publications from the University of California

Lack of MEF2A mutations in coronary artery disease

  • Author(s): Weng, Li
  • Kavaslar, Nihan
  • Ustaszewska, Anna
  • Doelle, Heather
  • Schackwitz, Wendy
  • Hebert, Sybil
  • Cohen, Jonathan
  • McPherson, Ruth
  • Pennacchio, Len A.
  • et al.

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 ~;300 patients with premature CAD and failed to find causative mutations in the CAD cohort. However, we did identify the 21 base pair (bp) MEF2A coding sequence deletion originally implicated in adCAD1 in one of 300 elderly control subjects without CAD. Further screening of an additional ~;1,500 non-CAD patients revealed two more subjects with the MEF2A 21 bp deletion. Genotyping of 19 family members of the three probands with the 21 bp deletion in MEF2A revealed that the mutation did not co-segregate with early CAD. These studies demonstrate that MEF2A mutations are not a common cause of CAD and cast serious doubt on the role of the MEF2A 21 bp deletion in adCAD1.

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