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OMIA:002080-9615 : Epidermolysis bullosa, simplex, PLEC-related in Canis lupus familiaris (dog)

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616487 (trait) , 226670 (trait) , 612138 (trait) , 131950 (trait) , 618488 (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: 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.

Breed: Eurasier (Dog) (VBO_0200512).
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
PLEC plectin Canis lupus familiaris 13 NC_051817.1 (37980292..37924192) PLEC 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 Year Published PubMed ID(s) Acknowledgements
351 Eurasier (Dog) 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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002080-9615: 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.

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.
2022 Marín-García, P.J., Llobat, L. :
Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci 9:433, 2022. Pubmed reference: 36006348. DOI: 10.3390/vetsci9080433.
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.

Edit History


  • Created by Frank Nicholas on 29 Nov 2016
  • Changed by Frank Nicholas on 30 Nov 2016