Linkage of familial dilated cardiomyopathy to chromosome 9

M. Krajinovic, B. Pinamonti, G. Sinagra, M. Vatta, G. M. Severini, J. Milasin, A. Falaschi, F. Camerini, M. Giacca, L. Mestroni, A. Di Lenarda, G. Lardieri, T. Morgera, F. Silvestri, R. Bussani, M. Davanzo, G. Meringolo

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Idiopathic dilated cardiomyopathy is a heart muscle disease of unknown etiology, characterized by impaired myocardial contractility and ventricular dilatation. The disorder is an important cause of morbidity and mortality and represents the chief indication for heart transplantation. Familial transmission is often recognized (familial dilated cardiomyopathy, or FDC), mostly with autosomal dominant inheritance. In order to understand the molecular genetic basis of the disease, a large six-generation kindred with autosomal dominant FDC was studied for linkage analysis. A genome-wide search was undertaken after a large series of candidate genes were excluded and was then extended to two other families with autosomal dominant pattern of transmission and identical clinical features. Coinheritance of the disease gene was excluded for >95% of the genome, after 251 polymorphic markers were analyzed. Linkage was found for chromosome 9q13-q22, with a maximum multipoint lod score of 4.2. There was no evidence of heterogeneity. The FDC locus was placed in the interval between loci D9S153 and D9S152. Several candidate genes for causing dilated cardiomyopathy map in this region.

Original languageEnglish
Pages (from-to)846-852
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics


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