Linkage/Locus Report


Title: Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.
Authors: Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R, Pignatelli R, and Towbin JA.
Journal: J Clin Invest, 1996;96:1355-1360.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
PubMed Link: 8823300
Citation Type: phenotype/genotype (clinical and genetic data)
Study Design: family linkage study
Study Measurements:
Summary: 12 of 26 family members were affected with dilated cardiomyopathy consistent with autosomal dominant inheritance. Linkage was found to chromosome 10 (q21-q23). Eight of the 12 affected members demonstrated mitral valve prolapse and mitral regurgitation, a distinctive clinical marker. Linkage analysis provided a maximum lod score of 3.77 for the 10q21-q23 chromosomal region.