OMIA:002034-9615 : Cerebellar cortical degeneration, SNX14-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616354 (trait) , 616105 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific description: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. Other phenotypically related ataxias in dogs may also be caused by variants in the ATP1B2, CAPN1, GRM1, ITPR1, KCNJ10, RAB24, SEL1L, and SPTBN2 genes.
History: Fenn et al. (2016) were the first to report the occurrence of this disorder in the Hungarian Vizsla breed.
Molecular basis: Fenn et al. (2016): "an exon 26 splice donor variant (CanFam3.1, chr12:45,530,566, c.2653 + 1G > A) in the Sorting Nexin 14 (SNX14) gene"
Clinical features: Fenn et al. (2016) report two affected littermates "with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy."
Pathology: Fenn et al. (2016): "Owners of both dogs elected for euthanasia shortly after the onset of signs. Histopathological examination revealed primary Purkinje neuron loss consistent with CCD [cerebellar cortical degeneration]."
Prevalence: Fenn et al. (2016): "Genetic screening of 133 unaffected Hungarian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in the wider population"
Breed:
Vizsla (Dog) (VBO_0201389).
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 |
|---|---|---|---|---|---|---|
| SNX14 | sorting nexin 14 | Canis lupus familiaris | 12 | NC_051816.1 (46368369..46295243) | SNX14 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 415 | Vizsla (Dog) | Cerebellar cortical degeneration, Hungarian Vizsla | SNX14 | splicing | Naturally occurring variant | CanFam3.1 | 12 | g.45530566C>T | c.26531G>A | 2016 | 27566131 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002034-9615: 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 | Cocostîrc, V., Paștiu, A.I., Pusta, D.L. : |
| An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568. | |
| Stee, K., Van Poucke, M., Lowrie, M., Van Ham, L., Peelman, L., Olby, N., Bhatti, S.F.M. : | |
| Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med 37:1306-1322, 2023. Pubmed reference: 37341581. DOI: 10.1111/jvim.16742. | |
| 2016 | Fenn, J., Boursnell, M., Hitti, R.J., Jenkins, C.A., Terry, R.L., Priestnall, S.L., Kenny, P.J., Mellersh, C.S., Forman, O.P. : |
| Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17:123, 2016. Pubmed reference: 27566131. DOI: 10.1186/s12863-016-0433-y. |
Edit History
- Created by Frank Nicholas on 30 Aug 2016
- Changed by Frank Nicholas on 30 Aug 2016
- Changed by Tosso Leeb on 07 Jul 2017
- Changed by Imke Tammen2 on 19 May 2023