OMIA 000328-9940 : Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in Ovis aries

In other species: cattle , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 225410

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific description: Although evidence was incomplete, it appeared for many years that this disorder in sheep is due to a mutation in the gene for the enzyme procollagen I amino proteinase, this being the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules.

Molecular basis: In 2012, Zhou et al. showed that the situation described in the Species-specific section above is, indeed, the case: the disorder in affected White Dorper sheep from New Zealand is due to a nonsense mutation (c.421G>T) in exon 2 of the gene encoding that procollagen proteinase. Unhelpfully, the gene is called ADAM metalloproteinase with thrombospondin type I motif, 2 (ADAMTS2).

Monteagudo et al. (2015) reported a second likely causal variant (c.805G>A; p.Val269Met) in the same gene, in an affected White Dorper from Spain.

Joller et al. (2017) reported an affected White Dorper in Switzerland with the same variant as reported in the New Zealand White Dorpers (now c.424G>T; p.Glu142*). This is consistent with the recent migration of White Dorpers from South Africa to many other countries.

Breed: White Dorper.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 Ovis aries 5 NC_019462.2 (1689818..1948698) ADAMTS2 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
White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) XM_012156230; XP_012011620 c.424G>T p.E142* 2012 22497338
White Dorper Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 nonsense (stop-gain) XM_012156230; XP_012011620 c.805G>A p.V269M 2015 25354687

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.
2017 Joller, S., Berenguer Veiga, I., Drögemüller, C. :
Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2. Anim Genet 48:729-730, 2017. Pubmed reference: 28856769. DOI: 10.1111/age.12591.
2015 Monteagudo, L.V., Ferrer, L.M., Catalan-Insa, E., Savva, D., McGuffin, L.J., Tejedor, M.T. :
In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis. Vet Dermatol 26:49-52, e15-6, 2015. Pubmed reference: 25354687. DOI: 10.1111/vde.12178.
2012 Zhou, H., Hickford, J.G., Fang, Q. :
A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. Anim Genet 43:471-3, 2012. Pubmed reference: 22497338. DOI: 10.1111/j.1365-2052.2011.02275.x.
2011 Vaatstra, B., Halliday, W.D., Waropastrakul, S. :
Dermatosparaxis in two white Dorper lambs. N Z Vet J 59:258-60, 2011. Pubmed reference: 21851305. DOI: 10.1080/00480169.2011.596183.
1993 Lapiere, C.M., Nusgens, B.V. :
Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research Archives of Dermatology 129:1316-1319, 1993. Pubmed reference: 8215498.
1992 Nusgens, B.V., Verellen-Dumoulin, C., Hermanns-Le, T., De Paepe, A., Nuytinck, L., Pierard, G.E., Lapiere, C.M. :
Evidence for a Relationship Between Ehlers-Danlos Type-VII-C in Humans and Bovine Dermatosparaxis Nature Genetics 1:214-217, 1992. Pubmed reference: 1303238. DOI: 10.1038/ng0692-214.
1991 Ramshaw, J.A., Mitrangas, K., Bateman, J.F. :
Heterogeneity in dermatosparaxis is shown by contraction of collagen gels. Connect Tissue Res 25:295-300, 1991. Pubmed reference: 2060304.
1990 Basrur, P.K., Yadav, B.R. :
Genetic Diseases of Sheep and Goats Veterinary Clinics of North America-Food Animal Practice 6:779-802, 1990. Pubmed reference: 2245374.
1988 Mauch, C., Mark, K. van der, Helle, O., Mollenhauer, J., Pfaffle, M., Krieg, T. :
A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblasts Journal of Cell Biology 106:205-211, 1988. Pubmed reference: 2828379.
van Halderen, A., Green, J.R. :
Dermatosparaxis in White Dorper sheep. J S Afr Vet Assoc 59:45, 1988. Pubmed reference: 3361559.
1986 van Weeren-Keverling Buisman, A., Koeman, J.P. :
[A form of dermatosparaxis in a Texel lamb]. Tijdschr Diergeneeskd 111:173-7, 1986. Pubmed reference: 3952722.
1985 Bavinton, J.H., Peters, D.E., Ramshaw, J.A. :
A morphologic study of a mild form of ovine dermatosparaxis. J Invest Dermatol 84:391-5, 1985. Pubmed reference: 3998490.
1984 Ramshaw, J.A. :
A mild form of ovine dermatosparaxis. Coll Relat Res 4:441-51, 1984. Pubmed reference: 6441674.
1983 Ramshaw, J.A., Peters, D.E., Jones, L.N., Badman, R.T., Brodsky, B.B. :
Ovine dermatosparaxis. Aust Vet J 60:149-51, 1983. Pubmed reference: 6412675.
1982 Wiestner, M., Rohde, H., Helle, O., Krieg, T., Timpl, R., Müller, P.K. :
Low rate of procollagen conversion in dermatosparactic sheep fibroblasts is paralleled by increased synthesis of type I and type III collagens. EMBO J 1:513-6, 1982. Pubmed reference: 7188350.
1976 Becker, U., Timpl, R. :
NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen. Biochemistry 15:2853-62, 1976. Pubmed reference: 949480.
1974 Fjølstad, M., Helle, O. :
A hereditary dysplasia of collagen tissues in sheep Journal of Pathology 112:183-188, 1974.
1972 Helle, O., Nes, N.N. :
A hereditary skin defect in sheep. Acta Vet Scand 13:443-5, 1972. Pubmed reference: 4673742.

Edit History


  • Created by Frank Nicholas on 16 Jul 2005
  • Changed by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 06 Dec 2011
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  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 19 Jun 2013
  • Changed by Frank Nicholas on 21 Nov 2017