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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616487 (trait) , 226670 (trait) , 612138 (trait) , 131950 (trait) , 618488 (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: 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.

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

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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

Reference


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