%600884
Table of Contents
Alternative titles; symbols
Cytogenetic location: 9q13 Genomic coordinates (GRCh38) : 9:61,500,001-65,000,000
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
In a single large 6-generation family with autosomal dominant dilated cardiomyopathy, Krajinovic et al. (1995) performed a genomewide search for linkage. After a large series of candidate genes were excluded, they demonstrated linkage to 9q13-q22 with a maximum multipoint lod score of 4.2 (when data from 2 other families selected on the basis of the same stringent diagnostic criteria were included). There was no evidence of heterogeneity. The FDC locus was placed in the interval between D9S153 and D9S152. Friedreich ataxia (229300), which is frequently associated with dilated cardiomyopathy, maps to the same region as does also the cAMP-dependent protein kinase (176893), which regulates calcium-channel ion conductance in the heart. Tropomodulin (190930), which maps to 9q22, was a particularly attractive candidate gene. The authors referred to the gene as FDC.
Dec, G. W., Fuster, V. Idiopathic dilated cardiomyopathy. New Eng. J. Med. 331: 1564-1575, 1994. [PubMed: 7969328, related citations] [Full Text]
Keeling, P. J., McKenna, W. J. Clinical genetics of dilated cardiomyopathy. Herz 19: 91-96, 1994. [PubMed: 8194837, related citations]
Krajinovic, M., Pinamonti, B., Sinagra, G., Vatta, M., Severini, G. M., Milasin, J., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Heart Muscle Disease Study Group. Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995. [PubMed: 7573045, related citations]
Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Chu, J. S., Driscoll, D. J., Burnett, J. C., Rodeheffer, R. J., Chesebro, J. H., Tazelaar, H. D. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. New Eng. J. Med. 326: 77-82, 1992. [PubMed: 1727235, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 154; DO: 0110443;
Cytogenetic location: 9q13 Genomic coordinates (GRCh38) : 9:61,500,001-65,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 9q13 | Cardiomyopathy, dilated 1B | 600884 | Autosomal dominant | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
In a single large 6-generation family with autosomal dominant dilated cardiomyopathy, Krajinovic et al. (1995) performed a genomewide search for linkage. After a large series of candidate genes were excluded, they demonstrated linkage to 9q13-q22 with a maximum multipoint lod score of 4.2 (when data from 2 other families selected on the basis of the same stringent diagnostic criteria were included). There was no evidence of heterogeneity. The FDC locus was placed in the interval between D9S153 and D9S152. Friedreich ataxia (229300), which is frequently associated with dilated cardiomyopathy, maps to the same region as does also the cAMP-dependent protein kinase (176893), which regulates calcium-channel ion conductance in the heart. Tropomodulin (190930), which maps to 9q22, was a particularly attractive candidate gene. The authors referred to the gene as FDC.
Dec, G. W., Fuster, V. Idiopathic dilated cardiomyopathy. New Eng. J. Med. 331: 1564-1575, 1994. [PubMed: 7969328] [Full Text: https://doi.org/10.1056/NEJM199412083312307]
Keeling, P. J., McKenna, W. J. Clinical genetics of dilated cardiomyopathy. Herz 19: 91-96, 1994. [PubMed: 8194837]
Krajinovic, M., Pinamonti, B., Sinagra, G., Vatta, M., Severini, G. M., Milasin, J., Falaschi, A., Camerini, F., Giacca, M., Mestroni, L., Heart Muscle Disease Study Group. Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995. [PubMed: 7573045]
Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Chu, J. S., Driscoll, D. J., Burnett, J. C., Rodeheffer, R. J., Chesebro, J. H., Tazelaar, H. D. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. New Eng. J. Med. 326: 77-82, 1992. [PubMed: 1727235] [Full Text: https://doi.org/10.1056/NEJM199201093260201]
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