OMIA 001716-9913 : Ehlers-Danlos syndrome, EPYC-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601657 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Mapping: 5q21

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).

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EPYC epiphycan Bos taurus 5 NC_037332.1 (20885187..20843099) EPYC 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
191 Holstein 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

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.
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.

Edit History


  • Created by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 28 Sep 2015
  • Changed by Tosso Leeb on 29 May 2018