OMIA:002080-9615 : Epidermolysis bullosa, simplex, PLEC-related in Canis lupus familiaris (dog)
Categories: Integument (skin) phene
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: Based on clinical signs and detailed diagnostic tests, Maudlin et al. (2016) sequenced the most likely candidate gene (PLEC) in all six members of a litter of Eurasier dogs, comprising three affecteds (two females and one male) and three normals, plus the two normal parents. They discovered a nonsense SNP (CanFam3 chr13: g.37461941G>A; c.?G>A; p.Trp?Stop) that segregates perfectly with the disorder and which is absent in 25 dogs of each of five other breeds.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLEC||plectin||Canis lupus familiaris||13||NC_051817.1 (37980292..37924192)||PLEC||Homologene, Ensembl , NCBI gene|
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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|
|351||Eurasier||Epidermolysis bullosa, simplex, PLEC||PLEC||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||13||g.37461941C>T||c.3947G>A||p.(W1316*)||CanFam3 chr13: g.37461941G>A; XM_539204.6:c.3947G>A; XP_539204.2:p.Trp1316Stop:||2016||27878870||Updated variant coordinates kindly provided by Tosso Leeb on 8 May 2020|
Cite this entry
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||Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :|
|Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787 . DOI: 10.1186/s13059-023-03023-7.|
|2016||Mauldin, E.A., Wang, P., Olivry, T., Henthorn, P.S., Casal, M.L. :|
|Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol 28:10-e3, 2016. Pubmed reference: 27878870 . DOI: 10.1111/vde.12394.|
- Created by Frank Nicholas on 29 Nov 2016
- Changed by Frank Nicholas on 30 Nov 2016