OMIA:001040-9615 : Ventricular arrhythmias and sudden death in Canis lupus familiaris (dog)

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 618329 (trait) , 616658 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Mapping: Brisbin et al. (2011) implicated a region in each of chromsome CFA6 and CFA11 in a pedigree of German Shepherd dogs.

Molecular basis: Meurs et al. (2019): "A single missense G/A variant in the QIL1 [also called MICOS13, C20H19ORF70] gene was associated with the cardiac arrhythmia (p < 0.0001). The variant was predicted to change the amino acid from conserved Glycine to Serine and to be deleterious."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Prevalence: Meurs et al. (2019): "the variant was significantly associated with the arrhythmia in the Rhodesian Ridgeback family (p = 0.001) and was identified as homozygous in the affected offspring and heterozygous in both of the parents."

Breeds: Boxer (Dog) (VBO_0200210), German Shepherd Dog (Dog) (VBO_0200577), Leonberger (Dog) (VBO_0200819), Rhodesian Ridgeback (Dog) (VBO_0201135).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MICOS13 mitochondrial contact site and cristae organizing system subunit 13 Canis lupus familiaris 20 NC_051824.1 (54997233..54999275) MICOS13 Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1085 Rhodesian Ridgeback (Dog) Ventricular arrhythmias and sudden death MICOS13 missense Naturally occurring variant CanFam3.1 20 g.54343438G>A c.325G>A p.(G109S) ENSCAFG00000018796: g.54343438 G>A. ENSCAFT00000029838.4:c.325G>A ENSCAFP00000027731.3:p.G109S) rs852200012 rs852200012 2019 30795627

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001040-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Reuter, A., DeFrancesco, T.C., Robertson, J.B., Meurs, K.M. :
Clinical outcome of idiopathic juvenile ventricular arrhythmias in 25 dogs. J Vet Cardiol 51:S1760-2734(23)00108-X:188-194, 2023. Pubmed reference: 38168659. DOI: 10.1016/j.jvc.2023.12.001.
Rivas, V.N., Stern, J.A., Ueda, Y. :
The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract , 2023. Pubmed reference: 37423841. DOI: 10.1016/j.cvsm.2023.05.016.
2019 Meurs, K.M., Friedenberg, S.G., Olby, N.J., Condit, J., Weidman, J., Rosenthal, S., Shelton, G.D. :
A QIL1 variant associated with ventricular arrhythmias and sudden cardiac death in the juvenile Rhodesian Ridgeback dog. Genes (Basel) 10:168, 2019. Pubmed reference: 30795627. DOI: 10.3390/genes10020168.
Wiberg, M., Niskanen, J.E., Hytönen, M., Dillard, K., Hagner, K., Anttila, M., Lohi, H. :
Ventricular arrhythmia and sudden cardiac death in young Leonbergers. J Vet Cardiol 27:10-22, 2019. Pubmed reference: 31881369. DOI: 10.1016/j.jvc.2019.11.006.
2011 Brisbin, A., Cruickshank, J., Moïse, N.S., Gunn, T., Bustamante, C.D., Mezey, J.G. :
Fast, exact linkage analysis for categorical traits on arbitrary pedigree designs. Genet Epidemiol 35:371-80, 2011. Pubmed reference: 21520271. DOI: 10.1002/gepi.20585.
Pariaut, R., Saelinger, C., Queiroz-Williams, P., Strickland, K.N., Marshall, H.C. :
Implantable cardioverter-defibrillator in a German shepherd dog with ventricular arrhythmias. J Vet Cardiol 13:203-10, 2011. Pubmed reference: 21849269. DOI: 10.1016/j.jvc.2011.04.006.
2010 Gelzer, A.R., Kraus, M.S., Rishniw, M., Hemsley, S.A., Moïse, N.S. :
Combination therapy with mexiletine and sotalol suppresses inherited ventricular arrhythmias in German shepherd dogs better than mexiletine or sotalol monotherapy: a randomized cross-over study. J Vet Cardiol 12:93-106, 2010. Pubmed reference: 20663731. DOI: 10.1016/j.jvc.2010.06.001.
2009 Cruickshank, J., Quaas, R.L., Li, J., Hemsley, S., Gunn, T.M., Moïse, N.S. :
Genetic analysis of ventricular arrhythmia in young German Shepherd Dogs. J Vet Intern Med 23:264-70, 2009. Pubmed reference: 19210315. DOI: 10.1111/j.1939-1676.2009.0265.x.
2008 Pariaut, R., Moïse, N.S., Koetje, B.D., Flanders, J.A., Hemsley, S.A., Farver, T.B., Gilmour, R.F., Gelzer, A.R., Kraus, M.S., Otani, N.F. :
Lidocaine converts acute vagally associated atrial fibrillation to sinus rhythm in German Shepherd dogs with inherited arrhythmias. J Vet Intern Med 22:1274-82, 2008. Pubmed reference: 18798790. DOI: 10.1111/j.1939-1676.2008.0188.x.
2007 Oxford, E.M., Everitt, M., Coombs, W., Fox, P.R., Kraus, M., Gelzer, A.R., Saffitz, J., Taffet, S.M., Moïse, N.S., Delmar, M. :
Molecular composition of the intercalated disc in a spontaneous canine animal model of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm 4:1196-205, 2007. Pubmed reference: 17765621. DOI: 10.1016/j.hrthm.2007.05.025.
2005 Gelzer, A.R., Moïse, N.S., Koller, M.L. :
Defibrillation of German shepherds with inherited ventricular arrhythmias and sudden death. J Vet Cardiol 7:97-107, 2005. Pubmed reference: 19083325. DOI: 10.1016/j.jvc.2005.09.006.
Protas, L., Sosunov, E.A., Anyukhovsky, E.P., Moïse, N.S., Rosen, M.R., Robinson, R.B. :
Regional dispersion of L-type calcium current in ventricular myocytes of German shepherd dogs with lethal cardiac arrhythmias. Heart Rhythm 2:172-6, 2005. Pubmed reference: 15851292. DOI: 10.1016/j.hrthm.2004.10.041.
2004 Sosunov, E.A., Obreztchikova, M.N., Anyukhovsky, E.P., Moïse, N.S., Danilo, P., Robinson, R.B., Rosen, M.R. :
Mechanisms of alpha-adrenergic potentiation of ventricular arrhythmias in dogs with inherited arrhythmic sudden death. Cardiovasc Res 61:715-23, 2004. Pubmed reference: 14985068. DOI: 10.1016/j.cardiores.2003.12.025.
2003 Obreztchikova, M.N., Sosunov, E.A., Anyukhovsky, E.P., Moïse, N.S., Robinson, R.B., Rosen, M.R. :
Heterogeneous ventricular repolarization provides a substrate for arrhythmias in a German shepherd model of spontaneous arrhythmic death. Circulation 108:1389-94, 2003. Pubmed reference: 12939224. DOI: 10.1161/01.CIR.0000086461.86642.22.
2002 Kraus, M.S., Moïse, N.S., Rishniw, M., Dykes, N., Erb, H.N. :
Morphology of ventricular arrhythmias in the boxer as measured by 12-lead electrocardiography with pace-mapping comparison. J Vet Intern Med 16:153-8, 2002. Pubmed reference: 11899030.
Meurs, K.M., Spier, A.W., Wright, N.A., Atkins, C.E., DeFrancesco, T.C., Gordon, S.G., Hamlin, R.L., Keene, B.W., Miller, M.W., Moise, N.S. :
Comparison of the effects of four antiarrhythmic treatments for familial ventricular arrhythmias in Boxers. J Am Vet Med Assoc 221:522-7, 2002. Pubmed reference: 12184702.
2000 Merot, J., Probst, V., Debailleul, M., Gerlach, U., Moise, N.S., Le, Marec, H., Charpentier, F. :
Electropharmacological characterization of cardiac repolarization in German shepherd dogs with an inherited syndrome of sudden death: Abnormal response to potassium channel blockers Journal of the American College of Cardiology 36:939-947, 2000. Pubmed reference: 10987623.
Sosunov, E.A., Gainullin, R.Z., Moise, N.S., Steinberg, S.F., Danilo, P., Rosen, M.R. :
beta(1) and beta(2)-adrenergic receptor subtype effects in German shepherd dogs with inherited lethal ventricular arrhythmias Cardiovascular Research 48:211-219, 2000. Pubmed reference: 11054468.
1999 Meurs, K.M., Spier, A.W., Miller, M.W., Lehmkuhl, L., Towbin, J.A. :
Familial ventricular arrhythmias in boxers Journal of Veterinary Internal Medicine 13:437-439, 1999. Pubmed reference: 10499727.
Sosunov, E.A., Anyukhovsky, E.P., Shvilkin, A., Hara, M., Steinberg, S.F., Danilo, P., Rosen, M.R., Moise, N.S., Merot, J., Probst, V., Charpentier, F., Legeay, Y., Le, Marec, H. :
Abnormal cardiac repolarization and impulse initiation in German shepherd dogs with inherited ventricular arrhythmias and sudden death Cardiovascular Research 42:65-79, 1999. Pubmed reference: 10434997.
1997 Dae, M.W., Lee, R.J., Ursell, P.C., Chin, M.C., Stillson, C.A., Moise, N.S. :
Heterogeneous sympathetic innervation in german shepherd dogs with inherited ventricular arrhythmia and sudden cardiac death Circulation 96:1337-1342, 1997. Pubmed reference: 9286967.
Freeman, L.C., Pacioretty, L.M., Moise, N.S., Kass, R.S., Gilmour, R.F. :
Decreased density of Ito in left ventricular myocytes from German shepherd dogs with inherited arrhythmias. J Cardiovasc Electrophysiol 8:872-83, 1997. Pubmed reference: 9261713.
Moïse, N.S., Gilmour, R.F., Riccio, M.L. :
An animal model of spontaneous arrhythmic death. J Cardiovasc Electrophysiol 8:98-103, 1997. Pubmed reference: 9116974.
Moïse, N.S., Riccio, M.L., Kornreich, B., Flahive, W.J., Gilmour, R.F. :
Age dependence of the development of ventricular arrhythmias in a canine model of sudden cardiac death. Cardiovasc Res 34:483-92, 1997. Pubmed reference: 9231031.
1996 Gilmour, R.F., Moise, N.S. :
Triggered activity as a mechanism for inherited ventricular arrhythmias in German Shepherd dogs Journal of the American College of Cardiology 27:1526-1533, 1996. Pubmed reference: 8626969.
Moise, N.S., Moon, P.F., Flahive, W.J., Brittain, D., Pride, H.P., Lewis, B.A., Zipes, D.P., Lee, R.J., Gilmour, R.F. :
Phenylephrine-induced ventricular arrhythmias in dogs with inherited sudden death Journal of Cardiovascular Electrophysiology 7:217-230, 1996. Pubmed reference: 8867296.
Moïse, N.S., Brittain, D.D., Flahive, W.J., Riccio, M.L., Ernst, R.S., Scarlett, J., Mohammed, H.O., Morrison, A.R., Gilmour, R.F. :
Relationship of ventricular tachycardia to sleep/wakefulness in a model of sudden cardiac death. Pediatr Res 40:344-50, 1996. Pubmed reference: 8827788.
1994 Moise, N.S., Meyers-Wallen, V., Flahive, W.J., Valentine, B.A., Scarlett, J.M., Brown, C.A., Chavkin, M.J., Dugger, D.A., Renaudfarrell, S., Kornreich, B., Schoenborn, W.C., Sparks, J.R., Gilmour, R.F. :
Inherited ventricular arrhythmias and sudden death in German Shepherd dogs Journal of the American College of Cardiology 24:233-243, 1994. Pubmed reference: 8006271.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 03 Oct 2011
  • Changed by Frank Nicholas on 28 May 2019
  • Changed by Imke Tammen2 on 18 Sep 2021
  • Changed by Imke Tammen2 on 17 Nov 2021
  • Changed by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 02 Nov 2023