OMIA:002295-9913 : classical Ehlers-Danlos syndrome (cEDS), COL5A2-related in Bos taurus
In other species: dog
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: 2020
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: The likely causal variant reported by Jacinto et al. (2020) "represents the first report of a causal variant for cEDS [classical Ehlers-Danlos syndrome] in cattle and the first COL5A2‐related large animal model."
Molecular basis: Jacinto et al. (2020): "Whole‐genome sequencing (WGS) identified a most likely disease‐causing mutation in the COL5A2 gene. . . . Genetic analysis revealed a private heterozygous missense variant inCOL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam."
Clinical features: Jacinto et al. (2020): "A 3‐day‐old female Holstein calf was referred because of easily induced skin detachment and hyperextensibility in the neck. A complete clinical investigation was performed in the calf, dam, and maternal‐grandmother. The calf and dam showed hyperextensibility of the neck skin and atrophic scarring; additionally, the calf presented skin fragility."
Pathology: Jacinto et al. (2020): "histopathology of biopsies from the calf and its dam showed that the collagen bundles in affected skin areas were wavy, short, thin, and surrounded by edema and moderate to severe acute hemorrhages."
Breed: Holstein (black and white) (Cattle) (VBO_0000237).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL5A2||collagen type V alpha 2||Bos taurus||2||NC_037329.1 (7198093..7358813)||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|
|1263||Holstein (black and white) (Cattle)||Ehlers-Danlos syndrome, classic type, 2||COL5A2||missense||Naturally occurring variant||ARS-UCD1.2||2||g.7331916G>T||c.2366G>T||p.(G789V)||XM_024979774.1: c.2366G>T; XP_024835542.1: p.Gly789Val (Jacinto et al., 2020)||2020||33143196|
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||Roberts, J.H., Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427 . DOI: 10.1007/978-3-030-80614-9_15.|
|Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. :|
|Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265 . DOI: 10.3389/fgene.2021.726474.|
|2020||Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Benazzi, C., Bolcato, M., Drögemüller, C. :|
|A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. Animals (Basel) 10:, 2020. Pubmed reference: 33143196 . DOI: 10.3390/ani10112002.|
|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 31 Oct 2020
- Changed by Frank Nicholas on 31 Oct 2020
- Changed by Frank Nicholas on 04 Nov 2020
- Changed by Tosso Leeb on 02 Jun 2022