Affected genes: ND
Inheritance:
Incomplete dominant for DCM3 (minor locus)
Recessive for DCM4 (major locus) and RNF207
Mutations :
-DCM3: chr5:53109178 A>G
-DCM4: chr5:60531090 G>A
-RNF207 (splice variant): chr5:60111983 G>A
OMIA link: ND

Breeds suitable for testing : Dobermann Pinscher

Symptoms:
DCM is characterized by cardiac hypertrophy, poor myocardial contractility and congestive heart failure.
DCM is a complex disease that is influenced by hereditary and non-hereditary factors, and signs of the disease vary from individual to individual. In their study, Niskanen et al., 2023 presented that although males and females are equally susceptible to DCM, males are more likely to present with systolic dysfunction and left ventricular dilatation than females. Furthermore, this study was carried out in a pool of 540 European Dobermanns, and the markers DCM3 and DCM4 have not been validated in the American population.
For the RNF207 gene, a mutation has also been identified (chr5:60111983 G>A) causing aberrant splicing and affecting the protein in the myocardium. In the study by Niskanen et al., 2023, 7 of the 10 Dobermans affected by DCM carried 2 copies of the mutation (A/A), while the 4 unaffected Dobermans had no copy of the mutation (G/G).

Reference:
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human. Genome Med. 2023 Sep 18;15(1):73. doi: 10.1186/s13073-023-01221-3. PMID: 37723491; PMCID: PMC10506233.