OMIA 000328-9913 : Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in Bos taurus

In other species: domestic cat , sheep

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Species-specific description: For many years, there was circumstantial evidence that this disorder in cattle is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Colige et al. (1999) showed that the above assumption in the Summary section (that the gene for the enzyme procollagen I amino proteinaseis was involved) is, indeed, the case: the disorder in Belgian Blue cattle is likely due to a a 3-bp change, followed by a 17-bp deletion in this gene. Unhelpfully, the gene is now called ADAM metalloproteinase with thrombospondin type I motif, 2 (ADAMTS2).

Holm et al. (2008) reported that the above mutation is not causative in Drakensberger cattle in South Africa.

Carty et al. (2016) reported a similar result for two full-sib affected Limousin cattle.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 Bos taurus 7 NC_037334.1 (2015432..2260679) ADAMTS2 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.

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
Belgian Blue Ehlers-Danlos syndrome, type VII (Dermatosparaxis) ADAMTS2 indel, small (<=20) UMD3.1 7 g.1957955_1957971delinsAGC c.464_480delinsAGC 1999 10417273 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.
2016 Carty, C.I., Lee, A.M., Wienandt, N.A., Stevens, E.L., Alves, D.A., Browne, J.A., Bryan, J., Ryan, E.G., Cassidy, J.P. :
Dermatosparaxis in two Limousin calves. Ir Vet J 69:15, 2016. Pubmed reference: 27777746. DOI: 10.1186/s13620-016-0074-5.
2013 Suregaonkar, S.N., Kotikalapudi, R., Patel, R.K., Suregaonkar, P.S.S. :
Screening of cattle breeds for 17bp deletion in a gene causing Ehlers-Danlos syndrome, type VII (Dermatosparaxia) Int J Vet Sci Med 2:96-98, 2013.
2008 Holm, DE., Van Wilpe, E., Harper, CK., Duncan, NM. :
The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa. J S Afr Vet Assoc 79:19-24, 2008. Pubmed reference: 18678187.
1999 Colige, A., Sieron, A.L., Li, S.W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D.H., Reardon, W., Byers, P.H., Lapiere, C.M., Prockop, D.J., Nusgens, B.V. :
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene American Journal of Human Genetics 65:308-317, 1999. Pubmed reference: 10417273. DOI: 10.1086/302504.
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.
1990 Yonemasu, K., Sasaki, T., Dohi, Y., Lapiere, C.M., Nusgens, B. :
C1q, a Collagen-Like Complement Subcomponent, in Dermatosparactic Cattle - Its Extracellular Modification Is Not Affected by Lack of Procollagen N-Terminal Proteinase (pN- Proteinase) Biochimica et Biophysica Acta 1096:47-51, 1990. Pubmed reference: 2268684.
1984 Witzig, P., Suter, M., Wild, P., Rao, V.H., Steinmann, B., von Rotz, A. :
[Dermatosparaxis in a foal and a cow--a rare disease?]. Schweiz Arch Tierheilkd 126:589-96, 1984. Pubmed reference: 6515392.
1974 Hanset, R., Lapiere, C.M. :
Inheritance of dermatosparaxis in the calf. A genetic defect of connective tissue Journal of Heredity 65:356-358, 1974. Pubmed reference: 4448898.
1971 Lenaers, A., Nusgens, B., Ansay, M., Lapiere, C.M. :
Dermatosparaxis of the calf, a genetic defect of the connective tissue. 3. The abnormal collagen Hoppe- Seyler's Zeitschrift fur Physiologische Chemie 352:14, 1971.
Simar, L.J., Betz, E.H. :
Dermatosparaxis of the calf, a genetic defect of the connective tissue. 2. Ultrastructural study of the skin Hoppe- Seyler's Zeitschrift fur Physiologische Chemie 352:13, 1971.
1968 Ansay, M., Gillet, A., Hanset, R. :
Hereditary dermatosparaxis (torn skin) in cattle: [2] a biochemical description of the skin Amis Med. Vet. 112:449-464, 1968.
Ansay, M., Gillet, A., Hanset, R. :
Hereditary dermatosparaxis (torn skin) in cattle: [3] complementary observations on the collagen and acid mucopolysaccharides Amis Med. Vet. 112:465-478, 1968.

Edit History


  • Created by Frank Nicholas on 26 Nov 2005
  • Changed by Frank Nicholas on 06 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 28 Oct 2016