title: A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16.
abstract: Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1-soluble, and laminin-alpha4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.
authors.affiliation: Laboratoire Génétique et Insuffisance Cardiaque, Association Claude Bernard/Université Paris VI, and IFR 14 "Coeur, Muscles et Vaisseaux," Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Sylvius
authors.forename: F
authors.initials: F
authors.lastname: Tesson
authors.forename: C
authors.initials: C
authors.lastname: Gayet
authors.forename: P
authors.initials: P
authors.lastname: Charron
authors.forename: A
authors.initials: A
authors.lastname: Bénaïche
authors.forename: M
authors.initials: M
authors.lastname: Peuchmaurd
authors.forename: L
authors.initials: L
authors.lastname: Duboscq-Bidot
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: C
authors.initials: C
authors.lastname: Bouchier
authors.forename: M
authors.initials: M
authors.lastname: Komajda
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002135:Calcium-Binding Proteins / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005602:France; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007797:Laminin / Q000235:genetics; D008126:Lod Score; D008291:Malate Dehydrogenase / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011995:Recombination, Genetic / Q000235:genetics; D012995:Solubility; D000099211:Phospholamban
chemical_list: D002135:Calcium-Binding Proteins; D005819:Genetic Markers; D007797:Laminin; D008291:Malate Dehydrogenase; D000099211:Phospholamban; C501369:LAMA4 protein, human; C034544:D-malate dehydrogenase (decarboxylating)