1. Association of A31P and A74T Polymorphisms in the Myosin Binding Protein C3 Gene and Hypertrophic Cardiomyopathy in Maine Coon and Other Breed Cats.
- Author
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Wess, G., Schinner, C., Weber, K., Küchenhoff, H., and Hartmann, K.
- Subjects
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HYPERTROPHIC cardiomyopathy , *MAINE coon cat , *MYOSIN , *ECHOCARDIOGRAPHY , *GENETIC polymorphisms , *CAT breeds , *GENETIC mutation - Abstract
Background: Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant trait in cats. The A31P single nucleotide polymorphism (SNP) in the myosin binding protein C 3 gene is thought to be the causative mutation in Maine Coon cats. Additionally, the A74T SNP is offered as a genetic test for HCM. Objectives: To evaluate the genetic association between the above-mentioned SNPs and phenotypes. Animals: Eighty-three Maine Coon cats and 68 cats of other breeds. Methods: The study was performed prospectively. Cats were phenotyped as healthy or HCM with echocardiography. Taqman genotyping assays were used for genotyping; results were confirmed by sequencing analysis. Results: A31P was found in 18/83 (22%) Maine Coon cats. Fifteen of 18 Maine Coons (83%) with the A31P mutation were healthy on echocardiographic examination (mean age 65 months). A74T was present in 28/79 (35%) of Maine Coons and in 42/68 (62%) of other cat breeds. Twenty-two of 28 (79%) of Maine Coons and 21/42 (62%) of other breed cats with the A74T mutation were healthy at a mean age of 72 months and 91 months, respectively. Of 12 Maine Coons with HCM, 9 (75%) were genotype-negative for A31P and 6 (50%) for A74T. Allele frequencies did not differ significantly ( P= .47) between phenotype groups. None of the evaluated genetic tests was able to provide useful predictive information of disease outcome. Conclusions and Clinical Importance: The value of currently available genetic tests is low in the cats of this study. The mutations analyzed appear to have a low penetrance, and even homozygote cats can remain healthy. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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