OMIA:001716-9913 : Ehlers-Danlos syndrome, EPYC-related in Bos taurus (taurine cattle)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 601657 (gene)
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: 1999
Species-specific name: This bovine "variant form of Ehlers-Danlos syndrome" reported by Tajima et al. 1999 does not correspond to any of the recognized human Ehlers-Danlos syndromes summarized in the review by Malfait et al. 2020.
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on a related human disorder), Tajima et al., 1999 reported that this disorder in one affected Holstein calf is due to a missense mutation (G254A) in the gene for dermatan sulfate proteoglycan, resulting in a serine-to-asparagine substitution in the serine-glycine repeat portion of the peptide, which is the binding portion of the peptide. The peptide is now called epiphycan, and its gene is called EPYC. It turns out that the related human disorder (Ehlers-Danlos syndrome, progeroid form) is due to mutations in a different gene (B4GALT7).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Holstein (black and white) (Cattle) (VBO_0000237).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EPYC||epiphycan||Bos taurus||5||NC_037332.1 (20885191..20843166)||EPYC||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|
|191||Holstein (black and white) (Cattle)||Ehlers-Danlos syndrome, Holstein variant||EPYC||missense||Naturally occurring variant||ARS-UCD1.2||5||g.20856381C>A||c.258G>T||p.(S87N)||1999||10357109||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
Cite this entry
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||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.|
|2014||Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014. Pubmed reference: 24443030. DOI: 10.1007/978-94-007-7893-1_14.|
|1999||Tajima, M., Miyake, S., Takehana, K., Kobayashi, A., Yamato, O., Maede, Y. :|
|Gene defect of dermatan sulfate proteoglycan of cattle affected with a variant form of Ehlers-Danlos syndrome Journal of Veterinary Internal Medicine 13:202-205, 1999. Pubmed reference: 10357109.|
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