title: The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy.
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.
authors: Richard D
authors: RD
authors: Bagnall
authors: Laura
authors: L
authors: Yeates
authors: Christopher
authors: C
authors: Semsarian
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D020107:Troponin T / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D020107:Troponin T; D000099163:Myosin Binding Protein C; C545568:TNNT2 protein, human