OMIA:002365-9615 : Cardiomyopathy, dilated, RBM20-related in Canis lupus familiaris
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613172 (trait) , 613171 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2014
Species-specific symbol: DCM
Inheritance: Harmon et al. (2017): "The occurrence of early onset DCM [dilated cardiomyopathy] in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance."
Molecular basis: Leach et al. (2014) report that dilated cardiomyopathy in standard schnauzers is associated with a homozygous 22 bp deletion in RBM20.
Leach et al. (2021): "homozygosity for the variant was highly associated with DCM and approximately 80% shortened lifespan."
Clinical features: Harmon et al. (2017): "describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days)." Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [IT thanks DVM student Caitlin Henning for contribution to this entry in April 2022].
Pathology: In the study by Harmon et al. (2017), postmortems performed on 5 SSNZ with DCM revealed moderate to marked cardiomegaly with biventricular dilation in all dogs. Histopathological examination performed on the left ventricle and interventricular septum showed myocyte degeneration in 4 out of 5 SSNZ, and increased interstitial fibrosis and myocyte attenuation in 3 SSNZ. [IT thanks DVM student Regis Tang, who provided the basis of this contribution in April 2022.]
Prevalence: Leach et al. (2022) genotyped 2136 samples from 14 different dog breeds for the associated RBM20 variant. "... approximately 21% of all tested SSNZ [standard schnauzer] samples carried at least one allele of the RBM20 variant, with 93% of those samples testing HET for the gene variant. Only 1.5% of the tested SSNZ samples were HOM for the gene variant. ... The RBM20 variant was also identified in GSNZ [giant schnauzer] dogs and was associated with DCM and premature death. The gene variant was not found in any of the 36 samples from breeds other than SSNZ or GSNZ."
Breeds: Giant Schnauzer, Standard Schnauzer.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RBM20||RNA binding motif protein 20||Canis lupus familiaris||28||NC_051832.1 (22616330..22687337)||RBM20||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1323||Giant Schnauzer Standard Schnauzer||Cardiomyopathy, dilated||RBM20||deletion, gross (>20)||Naturally occurring variant||28||22 bp deletion and frame shift in exon 11 of RBM20||2014||Reference not in PubMed; see OMIA 002365-9615 for reference details|
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.
|2022||Gaar-Humphreys, K.R., Spanjersberg, T.C.F., Santarelli, G., Grinwis, G.C.M., Szatmári, V., Roelen, B.A.J., Vink, A., van Tintelen, J.P., Asselbergs, F.W., Fieten, H., Harakalova, M., van Steenbeek, F.G. :|
|Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model. Animals (Basel) 12:, 2022. Pubmed reference: 35804579 . DOI: 10.3390/ani12131679.|
|Leach, S.B., Briggs, M., Hansen, L., Johnson, G.S. :|
|Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. J Vet Cardiol 40:119-125, 2022. Pubmed reference: 34144877 . DOI: 10.1016/j.jvc.2021.05.002.|
|Wess, G. :|
|Screening for dilated cardiomyopathy in dogs. J Vet Cardiol 40:51-68, 2022. Pubmed reference: 34732313 . DOI: 10.1016/j.jvc.2021.09.004.|
|2017||Harmon, M.W., Leach, S.B., Lamb, K.E. :|
|Dilated cardiomyopathy in standard schnauzers: Retrospective study of 15 cases. J Am Anim Hosp Assoc 53:38-44, 2017. Pubmed reference: 27841675 . DOI: 10.5326/JAAHA-MS-6506.|
|2014||Leach,S.B., Johnson, G.S., Gilliam, D., Harmon, M.W., Mhlanga-Mutangadura, T., Hansen, L., Tayler, J.F., Schnabel, R.D. :|
|Dilated cardiomyopathy in standard schnauzers with a homozygous 22 bp deletion in RBM20. Proceedings of the 32nd ACVIM Forum, 2014 June 4–7; Nashville, TN, USA. :1353, 2014. DOI: https://doi.org/10.1111/jvim.12375.|
|2003||Dukes-McEwan, J., Borgarelli, M., Tidholm, A., Vollmar, A.C., Häggström, J. :|
|Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Cardiol 5:7-19, 2003. Pubmed reference: 19081360 . DOI: 10.1016/S1760-2734(06)70047-9.|
- Created by Imke Tammen2 on 01 Jul 2021
- Changed by Imke Tammen2 on 01 Jul 2021
- Changed by Imke Tammen2 on 21 May 2022