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A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3

H Watkins1, C MacRae, L Thierfelder

  • 1Cardiology Division, Brigham and Women's Hospital, Boston, Massachusetts 02115.

Nature Genetics
|April 1, 1993
PubMed

Insights

Familial hypertrophic cardiomyopathy (FHC) is linked to a new gene locus on chromosome 1. This discovery indicates that at least three genetic factors contribute to FHC development.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Familial hypertrophic cardiomyopathy (FHC) is a genetic heart condition.
  • Missense mutations in the beta cardiac myosin heavy chain (MHC) gene cause FHC in less than half of cases.

Observation:

  • A large family with FHC, not linked to the beta MHC gene, was studied.
  • Linkage analysis identified a novel FHC-associated locus on chromosome 1q3 (lod score = 8.47).

Findings:

  • Two additional FHC families showed linkage to the chromosome 1 locus.
  • Six other families were excluded for linkage to this locus.
  • This suggests mutations in at least three genetic loci can cause FHC.

Implications:

  • The chromosome 1 locus is a significant finding for FHC genetics.
  • Candidate FHC genes at this locus include sarcomeric contractile proteins: troponin I, tropomyosin, and actin.
  • Identifying additional FHC genes refines genetic diagnosis and understanding of the disease.

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