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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 (trait) , 131750 (trait) , 131950 (trait) , 132000 (trait) , 226500 (trait) , 226600 (trait)

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*.

Garcia et al. (2020) "investigated three neonatal Basset Hound littermates with lesions consistent with epidermolysis bullosa" and "found a candidate causative variant in COL7A1 ... . The variant is a complex rearrangement involving duplication of a 107 bp region harboring a frameshift deletion of 7 bp. The variant is predicted to truncate more than 75% of the open reading frame, p.(Val677Serfs*11)."

Breeds: Basset Hound, 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_051824.1 (41004719..41035678) COL7A1 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
357 Central Asian Shepherd Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) Naturally occurring variant CanFam3.1 20 g.40532043C>T c.4579C>T p.(R1527*) 2017 28493971 Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool
38 Golden Retriever Epidermolysis bullosa, dystrophic COL7A1 missense Naturally occurring variant 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
1276 Basset Hound Epidermolysis bullosa, dystrophic COL7A1 complex rearrangement Naturally occurring variant CanFam3.1 20 g.[40524302_40524308del;40524267_40524380dup] c.[2028_2034del;1993_2050+56dup] p.(V677Sfs*11) NM_001002980.1; NP_001002980.1; complex duplication event spanning parts of exon 15 and intron 15 of the COL7A1 gene, starting at position 40,524,267 and ending at 40,524,380 on chromosome 20 (CanFam3.1 assembly) (Garcia et al., 2020). 2020 33291836
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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.
2021 Gretzmeier, C., Pin, D., Kern, J.S., Chen, M., Woodley, D.T., Bruckner-Tuderman, L., de Souza, M.P., Nyström, A. :
Systemic collagen VII replacement therapy for advanced recessive dystrophic epidermolysis bullosa. J Invest Dermatol :, 2021. Pubmed reference: 34606885. DOI: 10.1016/j.jid.2021.09.008.
2020 Garcia, T.M., Kiener, S., Jagannathan, V., Russell, D.S., Leeb, T. :
A COL7A1 variant in a litter of neonatal Basset Hounds with dystrophic epidermolysis bullosa. Genes (Basel) 11:, 2020. Pubmed reference: 33291836. DOI: 10.3390/genes11121458.
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
  • Changed by Imke Tammen2 on 17 Dec 2020