title: Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
abstract: Hypertrophic cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in sarcomeric protein encoding genes. One of these genes is cardiac myosin binding protein C (MyBP-C), in which a number of splice site and duplication mutations causing HCM have been described. During mutation screening of a South African HCM population by PCR-SSCP, a missense mutation, Arg654His, was detected in one proband. Although the mutation was present in his three adult children, only the proband himself was markedly affected. This is the first report of a disease associated missense mutation in MyBP-C which does not affect the myosin or titin binding domains.
authors.affiliation: University of Stellenbosch and South African Medical Research Council Centre for Molecular and Cellular Biology, Department of Medical Physiology and Biochemistry, Tygerberg.
authors.forename: J C
authors.initials: JC
authors.lastname: Moolman-Smook
authors.forename: B
authors.initials: B
authors.lastname: Mayosi
authors.forename: P
authors.initials: P
authors.lastname: Brink
authors.forename: V A
authors.initials: VA
authors.lastname: Corfield
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D009218:Myosins / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013019:South Africa; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D009218:Myosins; D000099163:Myosin Binding Protein C