OMIA 002295-9913 : classical Ehlers-Danlos syndrome (cEDS), COL5A2-related in Bos taurus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 130010 (trait) , 120190 (gene)

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.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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

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 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.

Edit History


  • 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