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Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22

Official URL:https://doi.org/10.1086/302580
PubMed:View item in PubMed
Creators Name:Jung, M. and Poepping, I. and Perrot, A. and Ellmer, A.E. and Wienker, T.F. and Dietz, R. and Reis, A. and Osterziel, K.J.
Journal Title:American Journal of Human Genetics
Journal Abbreviation:Am J Hum Genet
Page Range:1068-1077
Date:October 1999
Keywords:Dilated Cardiomyopathy, Chromosome 2, Conduction-System Disease
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.
Publisher:University of Chicago Press (U.S.A.)
Item Type:Article

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