OMIA 002084-9615 : Dyskinesia, paroxysmal, PIGN-related in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
614080
,
611147
,
118800
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_006583.3 (14684026..14791221) | PIGN | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Soft Coated Wheaten Terrier | Dyskinesia, paroxysmal, PIGN | PIGN | missense | CanFam3.1 | 1 | g.14705240C>T | c.398C>T | p.T133I | 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.
| 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. |
Edit History
- Created by Frank Nicholas on 01 Dec 2016