Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients With Dilated Cardiomyopathy.

The article examines the clinical and functional characterization of TNNT2 to ascertain if a putative mutation causes dilated cardiomyopathy (DCM) and to determine if DCM is preventable with early intervention in relatives known to carry the mutation. Bidirectional sequencing of TNNT2 in 313 probands with DCM revealed that 5 of the 9 probands showed mutations while functional studies of these mutations are disease-causing. It concludes that the combination clinical, pedigree and molecular data strengthen the interpretation of TNNT2 mutations in DCM.