Search Term: Cardiomyopathy
Disease Name
Cardiomyopathy
OMIA
162
Gene Name
unknown
Mutation
unknown-marker
Test Type
Genetic Disease/Disorder
Details
Markers: Sequencing within their CFA14 candidate region (see Mapping section) enabled Meurs et al. (2012) to report "a 16-base pair deletion in the 5' donor splice site of intron 10 of the pyruvate dehydrogenase kinase 4 [PDK4] gene" associated with the disorder in Dobermans. Their data showed that the deletion occurred in 82% of affected dogs and 39% of unaffected dogs, indicating that it is far from being causative. It could, however, be linked to a QTL for liability for the disorder. This PDK4 variant is not specific to Doberman Pinschers and it was not associated with DCM in the Doberman cohort from the European LUPA project (Owczarek-Lipska et al. 2013). Meurs et al. (2013) reported that the 8bp deletion in the striatin (STRN) gene that is responsible for Arrhythmogenic right ventricular cardiomyopathy (OMIA 000878-9615) in Boxers, is strongly (but not completely) associated with dilated cardiomyopathy in Boxers. Meurs et al. (2019) reported a GWAS that highlighted a variant in the TTN (titin) gene, noting that "in the overall population of Doberman pinschers evaluated, many dogs had the variant but have not developed the disease." Genetic testing: A DNA test for a linked marker of a juvenile form of this disorder (JDCM) in Portugese Water Dogs is included in the OFA's list at http://www.offa.org/dna_alltest.html, which directs enquiries to the PennGen laboratories, Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania: http://research.vet.upenn.edu/penngen. This linked marker is presumably based on the CFA8 results of Werner et al. (2008). A DNA test for this disorder in Dobermans is also included in the OFA's list. In this case, enquiries are directed to the College of Veterinary Medicine at the University of Missouri. The basis for this test is the linked marker reported by Meurs et al. (2012). Given the results of Meurs et al. (2012), it is evident that any DNA test based on this mutation will not be a good indicator of liability to this disorder in Dobermans. Given the results published up to and including 2019, there are still no useful markers for this disorder. [From OMIA, 2019]
Published
Meurs, K.M., Friedenberg, S.G., Kolb, J., Saripalli, C., Tonino, P., Woodruff, K., Olby, N.J., Keene, B.W., Adin, D.B., Yost, O.L., DeFrancesco, T.C., Lahmers, S., Tou, S., Shelton, G.D., Granzier, H. : A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Hum Genet :, 2019. Pubmed reference: 30715562. DOI: 10.1007/s00439-019-01973-2.
Published 2
Owczarek-Lipska, M., Mausberg, T.B., Stephenson, H., Dukes-McEwan, J., Wess, G., Leeb, T. : A 16-bp deletion in the canine PDK4 gene is not associated with dilated cardiomyopathy in a European cohort of Doberman Pinschers. Anim Genet 44:239, 2013. Pubmed reference: 22834541. DOI: 10.1111/j.1365-2052.2012.02396.x.
OMIA Url
Inheritance
Multifactorial
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