OMIA 001716-9913 : Ehlers-Danlos syndrome, Holstein variant in Bos taurus |
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.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Holstein | Ehlers-Danlos syndrome, Holstein variant | EPYC | missense | UMD3.1 | 5 | g.20922527 | 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.
| 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