#613286
Table of Contents
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1FF is caused by heterozygous mutation in the TNNI3 gene (191044).
For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200).
Carballo et al. (2009) analyzed the TNNI3 gene in 96 probands with dilated cardiomyopathy (CMD) in whom screening for mutations in 6 more commonly implicated CMD genes was negative and identified heterozygosity for 2 different TNNI3 missense mutations in 2 male probands (191044.0012 and 191044.0013, respectively). The probands, who were diagnosed with CMD at ages 15 and 24 years, respectively, both required cardiac transplantation soon after diagnosis.
Carballo, S., Robinson, P., Otway, R., Fatkin, D., Jongbloed, J. D. H., de Jonge, N., Blair, E., van Tintelen, J. P., Redwood, C., Watkins, H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ. Res. 105: 375-382, 2009. [PubMed: 19590045, related citations] [Full Text]
ORPHA: 154; DO: 0110459;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 19q13.42 | Cardiomyopathy, dilated, 1FF | 613286 | 3 | TNNI3 | 191044 |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1FF is caused by heterozygous mutation in the TNNI3 gene (191044).
For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200).
Carballo et al. (2009) analyzed the TNNI3 gene in 96 probands with dilated cardiomyopathy (CMD) in whom screening for mutations in 6 more commonly implicated CMD genes was negative and identified heterozygosity for 2 different TNNI3 missense mutations in 2 male probands (191044.0012 and 191044.0013, respectively). The probands, who were diagnosed with CMD at ages 15 and 24 years, respectively, both required cardiac transplantation soon after diagnosis.
Carballo, S., Robinson, P., Otway, R., Fatkin, D., Jongbloed, J. D. H., de Jonge, N., Blair, E., van Tintelen, J. P., Redwood, C., Watkins, H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ. Res. 105: 375-382, 2009. [PubMed: 19590045] [Full Text: https://doi.org/10.1161/CIRCRESAHA.109.196055]
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