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Published in Volume 98, Issue 6 (September 15,1996)
J. Clin. Invest. 98(6): 1355-1360 (1996). doi:10.1172/JCI118922.
Copyright © 1996, The American Society for Clinical Investigation.

Research Article

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.

Published September 15, 1996

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.

This article Copyright © 1996, The American Society for Clinical Investigation.

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