TNNT2 gene
The mutation c.650_652delAGA in TNNT2 gene has been reported in
several patients with dilated cardiomyopathy. The TNNT2 mutations
is thought to cause a fully penetrant and severe disease (Otten et
al., 2010 ; Mogensen et al., 2004 ). In 17 TNNT2 mutations
found in these patients, six (35%) were the specific TNNT2p.K217del mutation. Since an early age of disease manifestation was
observed, the severe phenotype associated with the TNNT2p.K217del mutation can be confirmed (Otten et al., 2010 ).
Besides, the experimental results suggest that this mutation altersTNNT2 activity. In Robinson et al., the deletion of codon 210 in
cardiac troponin T has been reported to be a cause of inherited dilated
cardiomyopathy (Robinson et al., 2002 ).