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 , 226670 , 612138 , 131950

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_006595.3 (37503752..37449379) 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.

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
Eurasier Epidermolysis bullosa, simplex, PLEC PLEC nonsense (stop-gain) CanFam3.1 13 g.37461941G>A c.3614G>A p.W1205* 2016 27878870 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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 :, 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