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| Item Type: | Article |
|---|---|
| Title: | Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22 |
| Creators Name: | Jung, M., Poepping, I., Perrot, A., Ellmer, A.E., Wienker, T.F., Dietz, R., Reis, A. and Osterziel, K.J. |
| Abstract: | Dilated cardiomyopathy (DCM) is a leading cause of heart failure and the most frequent indication for heart transplantation in young patients. Probably >25% of DCM cases are of familial etiology. We report here genetic localization in a three-generation German family with 12 affected individuals with autosomal dominant familial DCM characterized by ventricular dilatation, impaired systolic function, and conduction disease. After exclusion of known DCM loci, we performed a whole-genome screen and detected linkage of DCM to chromosome 2q14-q22. Investigation of only affected individuals defines a 24-cM interval between markers D2S2224 and D2S2324; when unaffected individuals are also included, the critical region decreases to 11 cM between markers D2S2224 and D2S112, with a peak LOD score of 3.73 at recombination fraction 0 at D2S2339. The identification of an additional locus for familial autosomal dominant DCM underlines the genetic heterogeneity and may assist in the elucidation of the causes of this disease. |
| Keywords: | Dilated Cardiomyopathy, Chromosome 2, Conduction-System Disease |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | University of Chicago Press |
| Volume: | 65 |
| Number: | 4 |
| Page Range: | 1068-1077 |
| Date: | October 1999 |
| Official Publication: | https://doi.org/10.1086/302580 |
| PubMed: | View item in PubMed |
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