OMIA 002365-9615 : Cardiomyopathy, dilated, RBM20-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613172 (trait) , 613171 (gene)

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. (2016): "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. (2016): "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)."

Prevalence: Leach et al. (2021): "determine the prevalence ... of a dilated cardiomyopathy (DCM)-associated RNA-binding motif protein 20 (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.

Associated gene:

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

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 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

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.
2021 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 :, 2021. Pubmed reference: 34144877. DOI: 10.1016/j.jvc.2021.05.002.
Wess, G. :
Screening for dilated cardiomyopathy in dogs. J Vet Cardiol :, 2021. Pubmed reference: 34732313. DOI: 10.1016/j.jvc.2021.09.004.
2016 Harmon, M.W., Leach, S.B., Lamb, K.E. :
Dilated cardiomyopathy in standard schnauzers: Retrospective study of 15 cases. J Am Anim Hosp Assoc :, 2016. 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. :, 2014. DOI: https://doi.org/10.1111/jvim.12375.

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  • Created by Imke Tammen2 on 01 Jul 2021
  • Changed by Imke Tammen2 on 01 Jul 2021