Familial dilated cardiomyopathy locus maps to chromosome 2q31

Inherited gene defects are an important cause of dilated cardiomyopathy. Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown. We clinically evaluated 3 generations of...

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Bibliographic Details
Published in:Circulation (New York, N.Y.) N.Y.), 1999-03, Vol.99 (8), p.1022-1026
Main Authors: SIU, B. L, NIIMURA, H, OSBORNE, J. A, FATKIN, D, MACRAE, C, SOLOMON, S, BENSON, D. W, SEIDMAN, J. G, SEIDMAN, C. E
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Cardiology. Vascular system
Cardiomyopathy, Dilated - genetics
Child
Chromosome Mapping
Chromosomes, Human, Pair 2
Female
Genetic Linkage
Heart
Humans
Male
Medical sciences
Middle Aged
Myocarditis. Cardiomyopathies
Pedigree
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Summary:Inherited gene defects are an important cause of dilated cardiomyopathy. Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown. We clinically evaluated 3 generations of a kindred with autosomal dominant transmission of dilated cardiomyopathy. Nine surviving and affected individuals had early-onset disease (ventricular chamber dilation during the teenage years and congestive heart failure during the third decade of life). The disease was nonpenetrant in 2 obligate carriers. To identify the causal gene defect, linkage studies were performed. A new dilated cardiomyopathy locus was identified on chromosome 2 between loci GCG and D2S72 (maximum logarithm of odds [LOD] score=4.86 at theta=0). Because the massive gene encoding titin, a cytoskeletal muscle protein, resides in this disease interval, sequences encoding 900 amino acid residues of the cardiac-specific (N2-B) domain were analyzed. Five sequence variants were identified, but none segregated with disease in this family. A dilated cardiomyopathy locus (designated CMD1G) is located on chromosome 2q31 and causes early-onset congestive heart failure. Although titin remains an intriguing candidate gene for this disorder, a disease-causing mutation is not present in its cardiac-specific N2-B domain.
ISSN:0009-7322
1524-4539
DOI:10.1161/01.CIR.99.8.1022