A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
- PMID: 11085912
- PMCID: PMC1234920
- DOI: 10.1086/316929
A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
Abstract
Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1-soluble, and laminin-alpha4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.
Figures


References
Electronic-Database Information
-
- GenBank: http://www.ncbi.nlm.nih.gov/Genbank/ (for cardiac actin gene [accession numbers J00070, J00071, J00072, and J00073], desmin gene [accession number M58168], LMNA gene [accession numbers L12399, L12400, and L12401], ME1 gene [accession number NM002395], PLN gene [accession number Z99496], and LAMA4 gene [accession number X91171])
-
- Généthon, http://www.genethon.fr (microsatellite markers and chromosome 6 linkage map)
-
- Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/Omim/ (for CMD1A [MIM 115200], CMD1B [MIM 600884], CMD1C [MIM 601493], CMD1D [MIM 601494], CMD1E [MIM 601154], CMD1F [MIM 602067], CMD1G [MIM 604145], CMD1H [MIM 604288], COL9A1 [MIM 120210], MYO6 [MIM 600970], VEGF [MIM 192240], PLN [MIM 600133], ME1 [MIM 154250], and LAMA4 [MIM 600133])
References
-
- Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101:473–476 - PubMed
-
- Charron P, Carrier L, Dubourg O, Tesson F, Desnos M, Richard P, Bonne G, Guicheney P, Hainque B, Bouhour JB, Mallet A, Feingold J, Schwartz K, Komajda M (1997) Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 8:107–114 - PubMed
-
- Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152–154 - PubMed
-
- Durand JB, Bachinski LL, Bieling LC, Czernuszewicz GZ, Abchee AB, Yu QT, Tapscott T, Hill R, Ifegwu J, Marian AJ, Brugada R, Daiger S, Gregoritch JM, Anderson JL, Quinones M, Towbin JA, Roberts R (1995) Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 92:3387–3389 - PubMed
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
LinkOut - more resources
Full Text Sources
Molecular Biology Databases