#608569
Table of Contents
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1O (CMD1O) is caused by heterozygous mutation in the ABCC9 gene (601439) on chromosome 12p12.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Bienengraeber et al. (2004) reported 2 unrelated patients with idiopathic cardiomyopathy and mutation in the ABCC9 gene. Both patients had severely dilated hearts with compromised contractile function and rhythm disturbances. The first patient, a male with no family history of dilated cardiomyopathy, was diagnosed at age 55 and died from heart failure at age 60. The second patient was a female diagnosed at age 40. Her father was diagnosed at age 54 and died at age 55 from heart failure. All affected individuals had ventricular tachycardia and normal coronary angiography.
The transmission pattern of dilated cardiomyopathy-1O in the patients reported by Bienengraeber et al. (2004) was consistent with autosomal dominant inheritance.
Bienengraeber et al. (2004) performed mutation scans of K(ATP) (ATP-sensitive potassium) channel genes in 323 individuals, predominantly of European descent, with idiopathic dilated cardiomyopathy. In 2 unrelated patients, they identified heterozygous mutations in the ABCC9 gene (601439.0001 and 601439.0002). Both mutations occurred in exon 38, which encodes the C-terminal domain of SUR2A specific to the cardiac splice variant of the regulatory K(ATP) channel subunit. The mutations resulted in dysfunction of the SUR2A subunit by disruption of the C terminus. Bienengraeber et al. (2004) suggested that these defects in the regulatory K(ATP) channel subunit disrupt catalysis-dependent gating and impair metabolic decoding, establishing a theretofore unrecognized mechanism of channel malfunction in human disease.
Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genet. 36: 382-387, 2004. [PubMed: 15034580, images, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 154; DO: 0110451;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12p12.1 | Cardiomyopathy, dilated, 1O | 608569 | Autosomal dominant | 3 | ABCC9 | 601439 |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1O (CMD1O) is caused by heterozygous mutation in the ABCC9 gene (601439) on chromosome 12p12.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Bienengraeber et al. (2004) reported 2 unrelated patients with idiopathic cardiomyopathy and mutation in the ABCC9 gene. Both patients had severely dilated hearts with compromised contractile function and rhythm disturbances. The first patient, a male with no family history of dilated cardiomyopathy, was diagnosed at age 55 and died from heart failure at age 60. The second patient was a female diagnosed at age 40. Her father was diagnosed at age 54 and died at age 55 from heart failure. All affected individuals had ventricular tachycardia and normal coronary angiography.
The transmission pattern of dilated cardiomyopathy-1O in the patients reported by Bienengraeber et al. (2004) was consistent with autosomal dominant inheritance.
Bienengraeber et al. (2004) performed mutation scans of K(ATP) (ATP-sensitive potassium) channel genes in 323 individuals, predominantly of European descent, with idiopathic dilated cardiomyopathy. In 2 unrelated patients, they identified heterozygous mutations in the ABCC9 gene (601439.0001 and 601439.0002). Both mutations occurred in exon 38, which encodes the C-terminal domain of SUR2A specific to the cardiac splice variant of the regulatory K(ATP) channel subunit. The mutations resulted in dysfunction of the SUR2A subunit by disruption of the C terminus. Bienengraeber et al. (2004) suggested that these defects in the regulatory K(ATP) channel subunit disrupt catalysis-dependent gating and impair metabolic decoding, establishing a theretofore unrecognized mechanism of channel malfunction in human disease.
Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genet. 36: 382-387, 2004. [PubMed: 15034580] [Full Text: https://doi.org/10.1038/ng1329]
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