Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.
We demonstrate that familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disorder of heart muscle, is a genetically heterogeneous disease. The locus responsible for FHC in members of one large kindred was recently mapped to chromosome 14q11-12 (FHC-1). We have characterized three additional unrelated families in which the gene for FHC segregates as an autosomal dominant trait to determine if these disease loci also map to FHC-1. All family members were clinically studied by physical examination, electrocardiogram, and two-dimensional echocardiography. Genetic studies were performed using DNA probes which are derived from loci that are closely linked to FHC-1. In one family the genetic defect maps to the previously identified FHC-1 locus. However, the loci responsible for FHC in two other families were not linked to FHC-1. We conclude that FHC can be caused by defects in at least two loci and is a genetically heterogeneous disorder.
Solomon
S D
SD
Cardiovascular Division, Brigham & Women's Hospital, Boston, Massachusetts 02115.
Jarcho
J A
JA
McKenna
W
W
Geisterfer-Lowrance
A
A
Germain
R
R
Salerni
R
R
Seidman
J G
JG
Seidman
C E
CE
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14; D004452:Echocardiography; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length