Identification of a new missense mutation in MyBP-C associated with hypertrophie cardiomyopathy
Date
1998
Authors
Moolman-Smook J.C.
Mayosi B.
Brink P.
Corfield V.A.
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Abstract
Hypertrophie cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in s arc orner ic 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 hi MyBP-C which does not affect the myosin or titin binding domains.
Description
Keywords
carrier protein, myosin, myosin binding protein C, myosin-binding protein C, adult, article, case report, genetic screening, genetics, human, hypertrophic cardiomyopathy, male, metabolism, mutation, polymerase chain reaction, single strand conformation polymorphism, South Africa, Adult, Cardiomyopathy, Hypertrophic, Carrier Proteins, Genetic Screening, Humans, Male, Mutation, Myosins, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, South Africa
Citation
Journal of Medical Genetics
35
3
35
3