ArticleAmerican journal of human genetics1999
Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 69 citations in OpenAlex.
- Bend it like BIN1: how a membrane-curving adaptor protein shapes cardiac physiology.American journal of physiology. Heart and circulatory physiology · 2025Review
- Mendelian forms of structural cardiovascular disease.Current cardiology reports · 2013Review
- Xin proteins and intercalated disc maturation, signaling and diseases.Frontiers in bioscience (Landmark edition) · 2012Review
- BIN1 localizes the L-type calcium channel to cardiac T-tubules.PLoS biology · 2010Article
- BAR the door: cancer suppression by amphiphysin-like genes.Biochimica et biophysica acta · 2009Review
- A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.Human genetics · 2005Article
- Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy.Journal of genetic counseling · 2001Article
- Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.American journal of human genetics · 2001Review
- A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16.American journal of human genetics · 2001Article
- Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.The Journal of clinical investigation · 2000Article
- Genetic abnormalities responsible for dilated cardiomyopathy.Current cardiology reports · 2000Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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