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Abstract
Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular genetic disorder,
and can result in heart failure and sudden death in the young. No mutation is identified
in up to 50% of cases of HCM following comprehensive analysis of known causal genes,
however standard methods overlook large deletions and duplications. The multiple ligation-dependent
probe amplification method was used to screen for large deletions and duplications
in the myosin-binding protein-C (MYBPC3) and cardiac troponin T (TNNT2) genes in patients
with HCM. One novel 3 base pair deletion was identified in MYBPC3 in a severely affected
patient; however this change was also found in an unaffected relative. No alterations
in the TNNT2 gene were identified. In conclusion, large deletions and duplications
do not appear to play a major role in the pathogenesis of HCM.