title: Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.
abstract: BACKGROUND
  Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS).
  
  
  OBJECTIVE
  To describe a novel blistering disease that arose spontaneously in a litter of puppies.
  
  
  METHODS
  Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis. The puppies had ulcers on the lips, tongue, nasal planum, paw pads and abdomen.
  
  
  RESULTS
  Immunolabelling on frozen skin for basement membrane proteins revealed patchy and weak to absent staining for plectin as compared with strong linear staining in normal dogs. Ultrastructurally, hemidesmosomes were irregularly shaped and had loss of distinction between inner and outer plaques. Pedigree analysis supported an autosomal recessive mode of inheritance. A premature stop codon was discovered in exon 27 of PLEC that resulted in the production of a severely truncated protein.
  
  
  CONCLUSIONS
  The study describes the first documented spontaneous EBS associated with a PLEC variant in domestic animals.
authors.affiliation: Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Mauldin
authors.affiliation: Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, 1052 William Moore Drive, Raleigh, NC, 27606, USA.|Comparative Medicine Institute, North Carolina State University, Raleigh, NC, 27695, USA.
authors.forename: Thierry
authors.identifier: http://orcid.org/0000-0003-1399-0034
authors.initials: T
authors.lastname: Olivry
authors.affiliation: Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
authors.forename: Paula S
authors.initials: PS
authors.lastname: Henthorn
authors.affiliation: Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104, USA.
authors.forename: Margret L
authors.initials: ML
authors.lastname: Casal
mesh_terms: D000818:Animals; D018389:Codon, Nonsense / Q000235:genetics* / Q000502:physiology; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology; D004285:Dogs / Q000235:genetics; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D005260:Female; D008297:Male; D010375:Pedigree; D051190:Plectin / Q000235:genetics* / Q000502:physiology; D035781:Siblings; D012867:Skin / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D051190:Plectin