A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

Cardiovasc Ultrasound. 2010 Mar 22:8:9. doi: 10.1186/1476-7120-8-9.

Abstract

We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Dilated / diagnostic imaging
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / physiopathology
  • Death, Sudden, Cardiac
  • Echocardiography
  • Exons / genetics
  • Family Health
  • Female
  • Heart Conduction System / physiopathology
  • Humans
  • Lamin Type A / genetics*
  • Loss of Heterozygosity
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree

Substances

  • LMNA protein, human
  • Lamin Type A