title: Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach.
abstract: Familial hypertrophic cardiomyopathy (FHC), a primary cardiac pathology, is a genetically heterogeneous disease, with autosomal dominant inheritance. The first gene identified as responsible for FHC codes for beta-myosin heavy chain (beta-MHC). To find a second locus, a candidate gene approach was applied on two families for which the beta-MHC locus was excluded. Selection of candidate genes is based on the observation of tissular and cellular disorganisation in FHC, and included genes coding for proteins involved in human myocardium architecture: the extracellular matrix components and cytoskeleton proteins. Chromosomal areas containing the candidate genes were examined by linkage analysis with microsatellite markers. The genes coding for different types of collagens, laminins, fibronectin, fibrillins, desmin, titin, alpha-actinin, vinculin, cardiac and skeletal alpha-actins, ankyrin and spectrin were excluded as responsible for FHC.
authors.affiliation: INSERM U127, Hôpital Lariboisière, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Dufour
authors.forename: L
authors.initials: L
authors.lastname: Carrier
authors.forename: C
authors.initials: C
authors.lastname: Hengstenberg
authors.forename: J
authors.initials: J
authors.lastname: Bercovici
authors.forename: E
authors.initials: E
authors.lastname: Dausse
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: M
authors.initials: M
authors.lastname: Komajda
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005815:Genetic Code; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans
chemical_list: D003598:Cytoskeletal Proteins; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers