title: Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
abstract: Dilated cardiomyopathy (DCM) is a leading cause of heart failure and the most frequent indication for heart transplantation in young patients. Probably >25% of DCM cases are of familial etiology. We report here genetic localization in a three-generation German family with 12 affected individuals with autosomal dominant familial DCM characterized by ventricular dilatation, impaired systolic function, and conduction disease. After exclusion of known DCM loci, we performed a whole-genome screen and detected linkage of DCM to chromosome 2q14-q22. Investigation of only affected individuals defines a 24-cM interval between markers D2S2224 and D2S2324; when unaffected individuals are also included, the critical region decreases to 11 cM between markers D2S2224 and D2S112, with a peak LOD score of 3.73 at recombination fraction 0 at D2S2339. The identification of an additional locus for familial autosomal dominant DCM underlines the genetic heterogeneity and may assist in the elucidation of the causes of this disease.
authors.affiliation: Mikrosatellitenzentrum, Max-Delbrück-Centrum, Berlin, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Jung
authors.forename: I
authors.initials: I
authors.lastname: Poepping
authors.forename: A
authors.initials: A
authors.lastname: Perrot
authors.forename: A E
authors.initials: AE
authors.lastname: Ellmer
authors.forename: T F
authors.initials: TF
authors.lastname: Wienker
authors.forename: R
authors.initials: R
authors.lastname: Dietz
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: K J
authors.initials: KJ
authors.lastname: Osterziel
mesh_terms: D000293:Adolescent; D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D018740:Genetic Heterogeneity; D005838:Genotype; D005858:Germany; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype