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Dilated Cardiomyopathy - 2nd VARIANT (Dobermann Type)

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Test Overview:

Genetic testing for both DCM1 (PDK4) and DCM2 (TTN) variants is highly recommended in Dobermanns to better estimate risk and inform breeding decisions. Avoid breeding two dogs both carrying high-risk DCM variants to prevent increased risk in offspring. Breeders should favour dogs clear of mutations or carrying only one variant with low penetrance and consult veterinary geneticists for balanced decisions.

Category:

Cardiovascular - Associated with the heart and blood vessels

Gene:

TTN

Variant Detected:

chr36:22657035 (canFam3): C/T

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 Dominant with Incomplete Penetrance

Research Citation(s):

Meurs KM (2016) Doberman DCM Update & DCM2 Gene – Webinar: https://mymediasite.online.ncsu.edu/online/Play/d84281e7f40643bd84d96f0755f0cb9b1d Meurs KM, Friedenberg SG, Kolb J, Saripalli C, Tonino P, Woodruff K, Olby NJ, Keene BW, Adin DB, Yost OL, DeFrancesco TC, Lahmers S, Tou S, Shelton GD, Granzier HG. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Hum Genet. 2019 May;138(5):515-524. doi: 10.1007/s00439-019-01973-2. [PubMed: 30715562]

Associated Breed(s):

Dobermann,

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