Dilated Cardiomyopathy, (DCM) DCM4 variant; Doberman Pinscher
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Dilated Cardiomyopathy, (DCM) DCM4 variant; Doberman Pinscher
OMIA
-112
Gene Name
DCM4
Mutation
chr5:60,531,090
Test Type
Genetic Disease/Disorder
Details
This is one risk variant associated with DCM in Dobermanns. DCM4 is considered the major variant, with an autosomal recessive effect. It is reported that this variant is potentially associated with risk for US populations of Dobermanns, but not associated with European populations. Recommendations are that Dobermanns from US populations should test for DCM1 and DCM2 in the first instance, and DCM3 and DCM4 in the second instance. Dobermanns from European populations should test for DCM3 and DCM4 (as of 2023). It should be noted that as this is a risk variant test, there are specific guidelines and recommendations for reducing risks for passing on this inherited disease and assessing the dog's individual risk. Generally, risk increases both with multiple copies of specific risk variants, and with more than one DCM risk variant.
Application Information
Recommendations are that Dobermanns from US populations should test for DCM1 and DCM2 in the first instance, and DCM3 and DCM4 in the second instance. Dobermanns from European populations should test for DCM3 and DCM4.
Assay/Test Information
Linkage
Inheritance
RVAR