IDENTIFICATION OF A NEW MISSENSE MUTATION IN MYBP-C ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY

Hypertrophic cardiomyopathy is a primary cardiac disease, characterise d by idiopathic myocardial hypertrophy, and is caused by defects in sa rcomeric protein encoding genes. One of these genes is cardiac myosin binding protein C (MyBP-C), in which a number of splice site and dupli cation mutations causing HCM have been described. During mutation scre ening of a South African HCM population by PCR-SSCP, a missense mutati on, Arg654His, was detected in one proband. Although the mutation was present in his three adult children, only the proband himself was mark edly affected. This is the first report of a disease associated missen se mutation in MyBP-C which does not affect the myosin or titin bindin g domains.