OMIA:002084-9615 : Dyskinesia, paroxysmal, PIGN-related in Canis lupus familiaris |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614080 (trait) , 614080 (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: 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.
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 109 | Soft Coated Wheaten Terrier | 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 |
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.
| 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 :, 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