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Research Article Free access | 10.1172/JCI118922

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

K R Bowles, R Gajarski, P Porter, V Goytia, L Bachinski, R Roberts, R Pignatelli, and J A Towbin

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Published September 15, 1996 - More info

Published in Volume 98, Issue 6 on September 15, 1996
J Clin Invest. 1996;98(6):1355–1360. https://doi.org/10.1172/JCI118922.
© 1996 The American Society for Clinical Investigation
Published September 15, 1996 - Version history
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Abstract

Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder, accounting for 60% of all cardiomyopathies. In 20-30% of cases, familial inheritance can be demonstrated; an autosomal dominant transmission is the usual type of inheritance pattern identified. Previously, genetic heterogeneity was demonstrated in familial autosomal dominant dilated cardiomyopathy (FDCM). Gene localization to chromosome 1 (1p1-1q1 and 1q32), chromosome 3 (3p25-3p22), and chromosome 9 (9q13-9q22) has recently been identified. We report one family with 26 members (12 affected) with familial autosomal dominant dilated cardiomyopathy in which linkage to chromosome 10 at the 10q21-q23 locus is identified. Using short tandem repeat polymorphism (STR) markers with heterozygosity > 70%, 169 markers (50% of the genome) were used before linkage was found to markers D10S605 and D10S201 with a pairwise LOD score = 3.91, theta = 0, penetrance = 100% for both markers. Linkage to 1p1-1q1, 1q32, 3p25-3p22, and 9q13-9q22 was excluded. We conclude that a new locus for pure autosomal dominant FDCM exists, and that this gene is localized to a 9 cM region of 10q21-10q23. The search for the disease causing gene and the responsible mutation(s) is ongoing.

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