%605582
Table of Contents
Cytogenetic location: 6q12-q16 Genomic coordinates (GRCh38) : 6:62,700,001-105,000,000
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Sylvius et al. (2001) reported the results of a linkage analysis of a French family in which 9 individuals in 3 successive generations expressed the pure form of dilated cardiomyopathy. They identified a novel locus, CMD1K, on 6q12-q16 using a genomewide search after exclusion of all other disease loci and genes for dilated cardiomyopathy. The maximum pairwise lod score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. The CMD1K locus did not overlap with 2 other disease loci mapped to 6q, CMD1J (605362) on 6q23-q24, and MFM1 (formerly CMD1F; 601419) on 6q23. Using SSCP and linkage analysis, Sylvius et al. (2001) excluded 3 candidate genes located near the CMD1K locus: phospholamban (PLN; 172405), malic enzyme-1 (ME1; 154250), and laminin alpha-4 (LAMA4; 600133).
Sylvius, N., Tesson, F., Gayet, C., Charron, P., Benaiche, A., Mangin, L., Peuchmaurd, M., Duboscq-Bidot, L., Feingold, J., Beckmann, J. S., Bouchier, C., Komajda, M. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. [PubMed: 11085912, images, related citations] [Full Text]
ORPHA: 154; DO: 0110437;
Cytogenetic location: 6q12-q16 Genomic coordinates (GRCh38) : 6:62,700,001-105,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 6q12-q16 | Cardiomyopathy, dilated, 1K | 605582 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Sylvius et al. (2001) reported the results of a linkage analysis of a French family in which 9 individuals in 3 successive generations expressed the pure form of dilated cardiomyopathy. They identified a novel locus, CMD1K, on 6q12-q16 using a genomewide search after exclusion of all other disease loci and genes for dilated cardiomyopathy. The maximum pairwise lod score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. The CMD1K locus did not overlap with 2 other disease loci mapped to 6q, CMD1J (605362) on 6q23-q24, and MFM1 (formerly CMD1F; 601419) on 6q23. Using SSCP and linkage analysis, Sylvius et al. (2001) excluded 3 candidate genes located near the CMD1K locus: phospholamban (PLN; 172405), malic enzyme-1 (ME1; 154250), and laminin alpha-4 (LAMA4; 600133).
Sylvius, N., Tesson, F., Gayet, C., Charron, P., Benaiche, A., Mangin, L., Peuchmaurd, M., Duboscq-Bidot, L., Feingold, J., Beckmann, J. S., Bouchier, C., Komajda, M. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. [PubMed: 11085912] [Full Text: https://doi.org/10.1086/316929]
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