A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3
- 1 April 1993
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 3 (4), 333-337
- https://doi.org/10.1038/ng0493-333
Abstract
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 locusKeywords
This publication has 24 references indexed in Scilit:
- Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3Genomics, 1992
- Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groupsGenomics, 1992
- Developmental expression of troponin I isoforms in fetal human heartFEBS Letters, 1991
- The CEPH consortium linkage map of human chromosome 1Genomics, 1991
- A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutationCell, 1990
- Report of the committee on the genetic constitution of chromosome 14Cytogenetic and Genome Research, 1990
- Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1New England Journal of Medicine, 1989
- Hypertrophic CardiomyopathyNew England Journal of Medicine, 1987
- Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogeneNature, 1986
- Nonparametric Estimation from Incomplete ObservationsJournal of the American Statistical Association, 1958