OMIA 002284-9615 : Polyneuropathy, SBF2-related in Canis lupus familiaris
Farré Mariné et al. (2020): "Twelve Miniature Schnauzers presented between March 2013 and June 2019. Only dogs presented with consistent clinical signs and homozygous for the MTRM13/SBF2 genetic variant were included. Clinical signs, age of onset and presentation, time from onset to presentation, treatment, outcome, and time from diagnosis to final follow-up were retrospectively reviewed. The hallmark clinical signs at the time of presentation were regurgitation with radiologically confirmed megaesophagus (11/12) and aphonic bark (11/12) with or without obvious neuromuscular weakness despite electrodiagnostic evidence of appendicular demyelinating polyneuropathy. Age of onset and clinical presentation were 3-18 and 4-96 months, respectively. Treatment was mostly symptomatic and consisted of head elevation during meals, antacids, prokinetics, bethanechol, sildenafil, mirtazapine, or some combination of these. During the follow-up period (7-73 months), clinical signs were unchanged in (11/12) cases with aspiration pneumonia developing occasionally (6/12) and being the cause of death in 1 dog. Demyelinating polyneuropathy of Miniature Schnauzers tends to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia."Prevalence: Granger et al. (2019): "Screening for the variant in a dataset of 802 whole genome sequences from 162 purebred dogs/mixed breed dogs/wolves identified two Miniature Schnauzers that were heterozygous for the variant and one mutant homozygote; the remaining 799 dogs were clear (File S3). On follow-up investigation the mutant homozygous dog was affected with neonatal lethal spondylocostal dysostosis, hence no clinical data relevant to the demyelinating neuropathy phenotype was available". Breed: Miniature Schnauzer. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SBF2||SET binding factor 2||Canis lupus familiaris||21||NC_051825.1 (34339237..33884844)||SBF2||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|
|1233||Miniature Schnauzer||Polyneuropathy, SBF2-related||SBF2||splicing||Naturally occurring variant||CanFam3.1||21||g.33080022C>A||c.2363+1G>T||p.(G775Vfs*5)||2019||31772832|
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.
|2020||Farré Mariné, A., Granger, N., Bertolani, C., Mascort Boixeda, J., Shelton, G.D., Luján Feliu-Pascual, A. :|
|Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases. J Vet Intern Med 34:2005-11, 2020. Pubmed reference: 32738000. DOI: 10.1111/jvim.15861.|
|2019||Granger, N., Luján Feliu-Pascual, A., Spicer, C., Ricketts, S., Hitti, R., Forman, O., Hersheson, J., Houlden, H. :|
|Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing <i>SBF2 (MTMR13)</i> genetic variant: a new spontaneous clinical model. PeerJ 7:e7983, 2019. Pubmed reference: 31772832. DOI: 10.7717/peerj.7983.|
|2008||Vanhaesebrouck, AE., Couturier, J., Cauzinille, L., Mizisin, AP., Shelton, GD., Granger, N. :|
|Demyelinating polyneuropathy with focally folded myelin sheaths in a family of Miniature Schnauzer dogs. J Neurol Sci 275:100-5, 2008. Pubmed reference: 18809183. DOI: 10.1016/j.jns.2008.07.031.|
- Created by Frank Nicholas on 04 Aug 2020
- Changed by Frank Nicholas on 04 Aug 2020
- Changed by Imke Tammen2 on 11 Dec 2020