Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients

Int J Cardiol. 2007 Sep 14;121(1):115-6. doi: 10.1016/j.ijcard.2006.08.049. Epub 2006 Nov 13.

Abstract

We sequenced the coding exons of the cardiac troponins T (TNNT2) and I (TNNI3) genes in 115 Spanish HCM-patients (32% with a family history of the disease). Only two (2%) had mutations in the TNNT2 (Arg278>Cys and Arg92>Lys). These mutations were associated with variable clinical outcomes. No patient had TNNI3-mutation. We also genotyped these patients and 320 healthy controls for a 5 bp insertion/deletion (I/D) polymorphism in intron 3 of TNNT2. DD-homozygotes for the 5 bp I/D polymorphism were significantly more frequent among the patients (OR=1.83, 95% CI=2.10-5.16).

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Hypertrophic / genetics*
  • Case-Control Studies
  • Exons
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Inteins
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Genetic
  • Sarcomeres / genetics*
  • Spain
  • Troponin I / genetics*
  • Troponin T / genetics*

Substances

  • Troponin I
  • Troponin T