OMIA:000341-9615 : Epidermolysis bullosa, dystrophic in Canis lupus familiaris |
In other species: sheep , domestic cat , cattle , goat
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131705 (trait) , 131750 (trait) , 131950 (trait) , 132000 (trait) , 226500 (trait) , 226600 (trait)
Links to MONDO diseases: No links.
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) | rs1152388417 | 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 |
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