OMIA 002084-9615 : Dyskinesia, paroxysmal, PIGN-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614080 (trait) , 614080 (gene)

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.
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