DCM Test Discovered
Mutation Causing Dilated Cardiomyopathy in Standard Schnauzers Identified
Jan 2, 2014 – The research team from the Animal Molecular Genetics Lab at the University of Missouri College of Veterinary Medicine is pleased to announce the discovery of a mutation responsible for development of Dilated Cardiomyopathy (DCM) in young Standard Schnauzers. A whole genome sequence (WGS) was run on an affected Standard Schnauzer, and analysis of the WGS data revealed a mutation in a gene associated with DCM in humans and laboratory mice. DNA from all the DCM-affected Standard Schnauzers in the UMC collection was tested, and the mutation was present in 9 of the 9 confirmed cases. Where available, DNA from relatives of the affected dogs was analyzed and all tested parents were found to be carriers, while other related dogs were a mixture of normal and carrier results, as was expected.
Random testing of Standard Schnauzer DNA samples in the UMC research collection or CHIC DNA Bank shows that this mutation is present at a relatively low level, but widespread throughout the samples. The mutation is not restricted to one or two family groups or distinct bloodlines, or to one coat color. As of the publication of this announcement, 397 SS's have been tested for the DCM mutation. Of these, 292 tested normal (have 2 normal copies of the gene), 96 tested carrier (have one normal and one mutated copy of the gene), and 9 tested affected (have 2 mutated copies of the gene). As stated above, these 9 dogs with the mutation are all confirmed cases. No dogs have tested affected and not shown clinical signs of the disease.
The research team is continuing to characterize the disease in this breed, and they seek information from any breeder or owner that has had a Standard Schnauzer diagnosed with DCM. Dogs diagnosed with DCM will be DNA tested at no charge if a blood sample and clinical information is submitted for research.
With this discovery, a DNA test is now available that will allow concerned Standard Schnauzer breeders to screen potential breeding partners for the mutation causing DCM. Wise use of this test will allow breeders to avoid the possibility of pups destined to be affected with DCM in future generations, and still maintain a healthy and diverse gene pool. Early in 2014, testing will be available through OFA, using a cheek swab and barcoded card to collect and send DNA for the test. An announcement will be made when testing is available through OFA. Dogs that are currently DNA banked at the University of Missouri for this or other research projects, or are in the CHIC DNA Bank via blood sample, can be tested now and are eligible for a reduced testing fee of $35. Owners who wish to test dogs that are not currently DNA banked, and do not want to wait for the test to be available through OFA can send a blood sample directly to the UMC lab for testing. The DNA testing fee for new samples is $65.
Additional information will be available online soon. Instructions and forms for requesting a DNA test from banked samples, or for sending new samples, can be requested by emailing Liz Hansen at HansenL@missouri.edu. More information will be shared with the Standard Schnauzer community as it becomes available. We look forward to working with concerned breeders and fanciers to reduce or eliminate DCM from this breed. Our thanks to all the owners and breeders who supplied samples and information that helped make this discovery possible.
We at Shana Schnauzers are in the process of having all our dogs tested. All our test results are available here.