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Dilated Cardiomyopathy (Schnauzer Type)

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Test Overview:

Genetic testing is recommended for all Schnauzers intended for breeding to identify carriers and affected dogs. Breeders should avoid mating two carriers to prevent producing affected puppies. Carriers can be bred to clear dogs, but offspring should be tested if intended for breeding to prevent propagation of the mutation

Category:

Cardiovascular - Associated with the heart and blood vessels

Gene:

RBM20

Variant Detected:

chr28:22146844-22146865 (canFam3): 22 bp deletion

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the RBM20 gene will reliably determine if a dog is a genetic carrier of the RBM20 Mutation associated with dilated cardiomyopathy (Schnauzer Type).

Research Citation(s):

Gilliam D (2016). Molecular Genetic Studies of Canine Inherited Diseases Including SAMS, Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy. (Ph.D. Dissertation). University of Missouri, Columbia, Missouri. Retrieved from https://mospace.umsystem.edu/xmlui/bitstream/handle/10355/56525/research.pdf?sequence=2&isAllowed=y [Not in PubMed] Harmon MW, Leach SB, Lamb KE. Dilated Cardiomyopathy in Standard Schnauzers: Retrospective Study of 15 Cases. J Am Anim Hosp Assoc. 2017 Jan/Feb;53(1):38-44. [PubMed: 27841675]

Associated Breed(s):

Giant Schnauzer, Miniature Schnauzer, Schnoodle, Standard Schnauzer,

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