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Search Term: Dilated Cardiomyopathy, (DCM); Schnauzer
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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
GTPs
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Other Recognized Accreditation Out Sourced Testing Participant
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Sponsor-
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IPFD Weighs In
...on recent media commentary: Genetics and Genomics for Dogs: Balancing daunting challenges and great potential
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The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management and advanced work in technical genetics research. Breed-specific information is also available in DWN's Pedigreed Dogs Database.
