OMIA:002295-9615 : classical Ehlers-Danlos syndrome (cEDS), COL5A2-related in Canis lupus familiaris
In other species: cattle
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 130010 (trait) , 120190 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2
Species-specific symbol: cEDS, EDS
Species-specific description: This phene has been renamed from "Ehlers-Danlos syndrome, classic type, 2" to "classical Ehlers-Danlos syndrome (cEDS), COL5A2-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].
History: Kiener et al. (2022) provided the first report of COL5A2-related classical Ehlers-Danlos syndrome (cEDS) in dogs.
Inheritance: Kiener et al. (2022): "The genotyping results of both parents revealed that COL5A2:c.3388_3414del represented a de novo variant as the mutant allele was absent from buccal cell DNA of both parents."
Molecular basis: Kiener et al. (2022): "Whole-genome sequencing [of the affected Chihuahua] identified a heterozygous de novo 27 bp deletion in the COL5A2 gene, COL5A2:c.3388_3414del. The in-frame deletion is predicted to remove 9 amino acids in the triple-helical region of COL5A2."
Clinical features: Kiener et al. (2022): "An 18-month-old spayed female Chihuahua was referred to the dermatology consultation for suspicion of EDS. The first clinical signs were noted on both eyes during puppyhood, at which time the dog was presented to the ophthalmologist with a diagnosis of corneal endothelial dystrophy. Moreover, its skin was hyperextensible . . . and abnormalities were noted on the face around the eyes and on the extremities where the skin was fragile and tore easily after scratching or rubbing . . . . Several episodes of wounds on the trunk after minor injuries or scratching were also reported".
Pathology: Kiener et al. (2022): "Histopathological examination showed a marked reduction in dermis thickness . . . . The density of collagen fibers was markedly reduced giving a loose appearance of the dermis."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL5A2||collagen, type V, alpha 2||Canis lupus familiaris||36||NC_051840.1 (30921527..30769002)||COL5A2||Homologene, Ensembl , NCBI gene|
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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|
|1460||Chihuahua||Ehlers-Danlos syndrome, classic type, 2||COL5A2||deletion, gross (>20)||Naturally occurring variant||CanFam3.1||36||g.30548697_30548723del||c.3388_3414del||p.(Lys1130_Asp1138del)||XM_005640393.3; XP_005640450.1||2022||35627319|
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.
|2022||Kiener, S., Chevallier, L., Jagannathan, V., Briand, A., Cochet-Faivre, N., Reyes-Gomez, E., Leeb, T. :|
|A COL5A2 in-frame deletion in a Chihuahua with Ehlers-Danlos syndrome. Genes (Basel) 13:934, 2022. Pubmed reference: 35627319 . DOI: 10.3390/genes13050934.|
|2020||Malfait, F., Castori, M., Francomano, C.A., Giunta, C., Kosho, T., Byers, P.H. :|
|The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64, 2020. Pubmed reference: 32732924 . DOI: 10.1038/s41572-020-0194-9.|
- Created by Frank Nicholas on 30 May 2022
- Changed by Frank Nicholas on 31 May 2022
- Changed by Tosso Leeb on 02 Jun 2022