OMIA 002269-9615 : Epidermolysis bullosa, junctionalis, LAMB3-related in Canis lupus familiaris
The mutant LAMB3 allele probably retains some residual function as the affected dogs show a JEB of intermediate severity. Complete LAMB3 null alleles lead to severe JEB with neonatal lethality in other species (Kiener et al. 2020).Clinical features: Affected puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. The average weight was about half that of their unaffected siblings. Due to the severity of the phenotype affected dogs were euthanized between 4 and 7.5 months of age (Kiener et al. 2020). The skin lesions were not seen at birth and developed only during the first weeks of life. This led to the classification of a JEB of intermediate severity (Kiener et al. 2020). Pathology: "Microscopically, the skin and mucosal biopsy samples all exhibited limited-to-widespread epidermal detachment, and ulcers were covered with serocellular crusts; inflammation was sparse in non-ulcerated areas. In some sections, the basement membrane could be discerned at the base of the clefts, thus suggesting the diagnosis of JEB." Epithelial detachment was also noted in an intestinal biopsy taken from duodenum during endoscopy of one of the affected puppies (Kiener et al. 2020). Breed: Australian Shepherd. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMB3||laminin, beta 3||Canis lupus familiaris||7||NC_051811.1 (8099489..7973087)||LAMB3||Homologene, Ensembl, NCBI gene|
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.
|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|
|Australian Shepherd||Epidermolysis bullosa, junctionalis, LAMB3-related||LAMB3||JEB||missense||CanFam3.1||7||NC_006589.3:g.8286613A>G||XM_014115071.2:c.1174T>C||XP_013970546.1:p.Cys392Arg||2020||32906717|
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.
|2020||Has, C., Bauer, J.W., Bodemer, C., Bolling, M.C., Bruckner-Tuderman, L., Diem, A., Fine, J.D., Heagerty, A., Hovnanian, A., Marinkovich, M.P., Martinez, A.E., McGrath, J.A., Moss, C., Murrell, D.F., Palisson, F., Schwieger-Briel, A., Sprecher, E., Tamai, K., Uitto, J., Woodley, D.T., Zambruno, G., Mellerio, J.E. :|
|Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol :, 2020. Pubmed reference: 32017015. DOI: 10.1111/bjd.18921.|
|Kiener, S., Laprais, A., Mauldin, E.A., Jagannathan, V., Olivry, T., Leeb, T. :|
|<i>LAMB3</i> Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. Genes (Basel) 11:, 2020. Pubmed reference: 32906717. DOI: 10.3390/genes11091055.|
- Created by Tosso Leeb on 21 May 2020
- Changed by Tosso Leeb on 21 May 2020
- Changed by Tosso Leeb on 11 Sep 2020