Dilated Cardiomyopathy, (DCM); Schnauzer
Breed: Giant Schnauzers
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Dilated Cardiomyopathy, (DCM); Schnauzer
OMIA
-42
Gene Name
RBM20
Mutation
c.2472_2493delGAAGGTCAAAATCTGCCCAGA
Mutation 2
c.2472_2493del
Test Type
Genetic Disease/Disorder
Details
"This disease condition is a frequent cause of disability and premature death in dogs. Breed-to-breed differences in ages at onset, survival times, inheritance patterns, and myocardial histopathology, are indicative of major genetic contributions... Although DCM has probably occurred in most if not all dog breeds, several reports have focused on the DCM-associated epidemiology, clinical characteristics, laboratory findings and histopathology in certain breeds with a high prevalence of the disease including Boxer, Doberman Pinscher, Great Dane, Irish Wolfhound, Newfoundland, and Portuguese Water Dog. The ages at onset of clinical signs ranged from 0.9 to 2.9 years. The familial relationships between affected dogs was consistent with an autosomal recessive mode of inheritance. Here we report that a whole genome sequence from one of the affected Standard Schnauzers contained a rare an RBM20 deletion and frameshift that is the apparent cause of DCM in the breed." [From Gilliam et al. 2016]
Published
Gilliam, H. Douglas Jr. (2016): Molecular Genetic Studies of Canine Inherited Diseases Including Sams, Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy. A Dissertation presented to the Faculty of the Graduate School University of Missouri.
Body/System/Process
Cardiovascular
Inheritance
AR
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RBM20
Mutation
c.2472_2493del
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
This test is outsourced to:
Weatherby's
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA