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Familial hypertrophic cardiomyopathy (FHC) is caused by missense mutations in the beta cardiac myosin heavy chain (MHC) gene in less than half of affected individuals. To identify the location of another gene involved in this disorder, a large family with FHC not linked to the beta MHC gene was studied. Linkage was detected between the disease in this family and a locus on chromosome 1q3 (maximum multipoint lod score = 8.47). Analyses in other families with FHC not linked to the beta MHC gene, revealed linkage to the chromosome 1 locus in two and excluded linkage in six. Thus mutations in at least three genetic loci can cause FHC. Three sarcomeric contractile proteins--troponin I, tropomyosin and actin--are strong candidate FHC genes at the chromosome 1 locus.

Original publication

DOI

10.1038/ng0493-333

Type

Journal article

Journal

Nat Genet

Publication Date

04/1993

Volume

3

Pages

333 - 337

Keywords

Actins, Age Factors, Base Sequence, Cardiomyopathy, Hypertrophic, Child, Chromosome Mapping, Chromosomes, Human, Pair 1, Contractile Proteins, DNA Primers, Female, Genetic Linkage, Genetic Markers, Humans, Introns, Lod Score, Male, Molecular Sequence Data, Myosins, Pedigree, Point Mutation, Polymorphism, Genetic, Probability, Recombination, Genetic, Survival Analysis, Survival Rate, Tropomyosin, Troponin, Troponin I