Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22

Am J Hum Genet. 1999 Oct;65(4):1068-77. doi: 10.1086/302580.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / physiopathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Heterogeneity*
  • Genotype
  • Germany
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Phenotype

Associated data

  • OMIM/102540
  • OMIM/115200
  • OMIM/212110
  • OMIM/300069
  • OMIM/302045
  • OMIM/302060
  • OMIM/510000
  • OMIM/600884
  • OMIM/601154
  • OMIM/601493
  • OMIM/601494
  • OMIM/602067