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