Deletion in TNNI3 gene is associated with restrictive cardiomyopathy

Int J Cardiol. 2009 Jan 24;131(3):410-2. doi: 10.1016/j.ijcard.2007.07.108. Epub 2007 Nov 14.

Abstract

In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift and predicted formation of a premature stop codon, deletion of part of exon 7 and all exon 8, and truncation of significant C-terminal portion of TNNI3. Western blot analysis showed approximately 50% reduction of total troponin I content in myocardial tissue. The clinical hallmark was a restrictive type of cardiac hemodynamics, and congestive heart failure, leading to the death of the patient at the age of 28.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Cardiomyopathy, Restrictive / diagnosis
  • Cardiomyopathy, Restrictive / genetics*
  • Echocardiography
  • Fatal Outcome
  • Female
  • Gene Deletion*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide

Associated data

  • GENBANK/DQ303406