OMIA:001040-9615 : Ventricular arrhythmias and sudden death in Canis lupus familiaris (dog) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618329 (trait) , 616658 (gene)
Mendelian trait/disorder: unknown
Disease-related: 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."
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. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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
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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 | 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 | 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 53:1255-1276, 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