OMIA:002645-9615 : Pseudomyotonia, paradoxical, SLC7A10-related in Canis lupus familiaris (dog)
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 607959 (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: 2023
History: Stee et al. (2019) were the first to report this disorder in dogs.
Molecular basis: Stee et al. (2019) reported that "The underlying genetic cause is not identified yet, because no disease-causing variants could be found in the coding sequence or splice sites of the 2 major candidate genes, SCN4A and ATP2A1".
Van Poucke et al. (2023) describe the "identification of the autosomal recessive c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant as candidate disease-causing variant in both ECS [ English Cocker Spaniel] and ESS [English Springer Spaniel]."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Stee et al. (2020) report onset of episodes of myotonic-like generalised muscle stiffness post strenuous exercise (exercise-induced, climbing stairs, jumping) in affected dogs typically before they are 2 years of age. Episodes generally resolve in less than 45 seconds, but van Poucke et al. (2023) report that more severe episodes can be associated with apnoea and cyanosis. Stee et al. (2020) state that "extreme outside temperatures seemed to considerably worsen episode frequency and severity in most dogs. Complete blood count, serum biochemistry including electrolytes, urinalysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, electromyography, motor nerve conduction velocity, ECG, and echocardiography were unremarkable. Muscle biopsy samples showed moderate but nonspecific muscle atrophy." IT thanks DVM student Adeline Choi, who provided the basis of this contribution in May 2023.
Prevalence: Van Poucke et al. (2023): "The [c.126C>A(p.(Cys42Ter)) SLC7A10] variant has an estimated prevalence of 2.5% in both breeds in the British study samples, but was not identified in the Belgian study samples.
English Cocker Spaniel,
English Springer Spaniel.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC7A10||solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10||Canis lupus familiaris||1||NC_051805.1 (119506650..119521536)||SLC7A10||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|
|1534||English Cocker Spaniel English Springer Spaniel||Paradoxical pseudomyotonia||SLC7A10||nonsense (stop-gain)||Naturally occurring variant||ROS_Cfam_1.0||1||g.119506784C>A||c.126C>A||p.(C42*)||XM_038657580.1; XP_038513508.1||2023||36869603|
Cite this entry
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||Van Poucke, M., Stee, K., Lowrie, M., Peelman, L. :|
|The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels. Anim Genet , 2023. Pubmed reference: 36869603. DOI: 10.1111/age.13312.|
|2020||Stee, K., Van Poucke, M., Peelman, L., Lowrie, M. :|
|Paradoxical pseudomyotonia in English Springer and Cocker Spaniels. J Vet Intern Med 34:253-7, 2020. Pubmed reference: 31729100. DOI: 10.1111/jvim.15660.|
- Created by Imke Tammen2 on 09 Mar 2023
- Changed by Imke Tammen2 on 09 Mar 2023
- Changed by Imke Tammen2 on 19 May 2023