Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

ABSTRACT:

Background

A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease, may be preventable with early intervention in relatives known to carry the mutation.

Methods and results

We recently undertook bidirectional resequencing of TNNT2, the cardiac troponin T gene, in 313 probands with DCM. We identified 6 TNNT2 protein-altering variants in 9 probands, all who had early onset, aggressive disease. Additional family members of mutation carriers were then studied when available. Four of the 9 probands had DCM without a family history, and 5 probands had familial DCM. Only 1 mutation (Lys210del) could be att

SUBMITTER: Hershberger RE 

PROVIDER: S-EPMC2900844 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature