OMIA:002084-9615 : Dyskinesia, paroxysmal, PIGN-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614080 (trait) , 614080 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2016
Molecular basis: By comparing the whole-genome sequence of two affected Soft-Coated Wheaten Terriers and "100 control canid whole genome sequences", Kolicheski et al. (2016) identified the likely causal mutation as a missense SNP (c.398C>T; p.T133I) in the PIGN gene.
Breed:
Soft Coated Wheaten Terrier (Dog) (VBO_0201260).
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 |
|---|---|---|---|---|---|---|
| PIGN | phosphatidylinositol glycan anchor biosynthesis, class N | Canis lupus familiaris | 1 | NC_051805.1 (14544736..14652948) | PIGN | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 109 | Soft Coated Wheaten Terrier (Dog) | Dyskinesia, paroxysmal, PIGN | PIGN | missense | Naturally occurring variant | CanFam3.1 | 1 | g.14705240C>T | c.398C>T | p.(T133I) | XM_022415750.1; XP_022271458.1 | 2016 | 27891564 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002084-9615: 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.
| 2024 | Mandigers, P.J.J., Santifort, K.M., Lowrie, M., Garosi, L. : |
| Canine paroxysmal dyskinesia-a review. Front Vet Sci 11:1441332, 2024. Pubmed reference: 39119350. DOI: 10.3389/fvets.2024.1441332. | |
| 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. | |
| 2022 | Santifort, K.M., Mandigers, P.J.J. : |
| Dystonia in veterinary neurology. J Vet Intern Med 36:1872-1881, 2022. Pubmed reference: 36086931. DOI: 10.1111/jvim.16532. | |
| 2021 | Cerda-Gonzalez, S., Packer, R.A., Garosi, L., Lowrie, M., Mandigers, P.J.J., O'Brien, D.P., Volk, H.A. : |
| International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med 35:1218-1230, 2021. Pubmed reference: 33769611. DOI: 10.1111/jvim.16108. | |
| 2017 | Stassen, Q.E.M., Koskinen, L.L.E., van Steenbeek, F.G., Seppälä, E.H., Jokinen, T.S., Prins, P.G.M., Bok, H.G.J., Zandvliet, M.M.J.M., Vos-Loohuis, M., Leegwater, P.A.J., Lohi, H. : |
| Paroxysmal dyskinesia in Border Terriers: Clinical, epidemiological, and genetic investigations. J Vet Intern Med 31:1123-1131, 2017. Pubmed reference: 28703446. DOI: 10.1111/jvim.14731. | |
| 2016 | Kolicheski, A.L., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Kinoshita, T., Murakami, Y., O'Brien, D.P. : |
| A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics 18:39-47, 2016. Pubmed reference: 27891564. DOI: 10.1007/s10048-016-0502-4. | |
| 2004 | Shelton, G.D. : |
| Muscle pain, cramps and hypertonicity. Vet Clin North Am Small Anim Pract 34:1483-96, 2004. Pubmed reference: 15474685. DOI: 10.1016/j.cvsm.2004.05.019. |
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- Created by Frank Nicholas on 01 Dec 2016