Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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




Journal article


Nat Genet

Publication Date





333 - 337


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