OMIA 000341-9615 : Epidermolysis bullosa, dystrophic in Canis lupus familiaris

In other species: sheep , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131705 , 131750 , 131950 , 132000 , 226500 , 226600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2003

Cross-species summary: Blisters on the outer layer of skin.

Species-specific name: Recessive dystrophic epidermolysis bullosa (RDEB)

History: The Golden Retriever colony of affected dogs was first described by Palazzi et al. (2000).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Baldeschi et al. (2003) showed that the molecular basis of this disorder in a family of Golden Retrievers is a missense mutation (5716G>A) in the COL7A1 gene, resulting in a G1906S amino-acid substitution.

Niskanen et al. (2017) reported a likely causal variant in Central Asian Shepherd dogs as a nonsense mutation in COL7A1, namely c.4579C>T, p.R1527*.

Breeds: Central Asian Shepherd, Golden Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL7A1 collagen, type VII, alpha 1 Canis lupus familiaris 20 NC_006602.3 (40519121..40550305) COL7A1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Central Asian Shepherd Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) CanFam3.1 20 g.40532043 c.4579C>T p.R1527* 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense CanFam3.1 20 g.40538034G>A c.5716G>A p.G1906S 2003 12874109 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2017 Niskanen, J., Dillard, K., Arumilli, M., Salmela, E., Anttila, M., Lohi, H., Hytönen, M.K. :
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 12:e0177527, 2017. Pubmed reference: 28493971. DOI: 10.1371/journal.pone.0177527.
2011 Gache, Y., Pin, D., Gagnoux-Palacios, L., Carozzo, C., Meneguzzi, G. :
Correction of Dog Dystrophic Epidermolysis Bullosa by Transplantation of Genetically Modified Epidermal Autografts. J Invest Dermatol :, 2011. Pubmed reference: 21697889. DOI: 10.1038/jid.2011.172.
2005 Magnol, JP., Pin, D., Palazzi, X., Lacour, JP., Gache, Y., Meneguzzi, G. :
[Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol] Bull Acad Natl Med 189:107-19; discussion 119-21, 2005. Pubmed reference: 16119884.
2003 Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. :
Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.
2000 Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J.P., Meneguzzi, G. :
Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000. Pubmed reference: 10886525. DOI: 10.1046/j.1523-1747.2000.00031-5.x.
1995 Nagata, M., Shimizu, H., Masunaga, T., Nishikawa, T., Nanko, H., Kariya, K., Washizu, T., Ishida, T. :
Dystrophic form of inherited epidermolysis bullosa in a dog (akita inu) British Journal of Dermatology 133:1000-1003, 1995. Pubmed reference: 8547021.

Edit History


  • Created by Frank Nicholas on 24 Oct 2005
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Oct 2012
  • Changed by Frank Nicholas on 28 Sep 2015
  • Changed by Frank Nicholas on 23 May 2017