OMIA:000328-9913 : Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related in Bos taurus (taurine cattle) |
In other species: dog , domestic cat , sheep
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 225410 (trait) , 604539 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1999
Species-specific name: Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis); dermatosparaxis
Species-specific symbol: dEDS; EDS
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. This phene has been renamed from "Ehlers-Danlos syndrome, type VII (Dermatosparaxis)" to "Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].
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.
Breed:
Belgian Blue (Cattle) (VBO_0000139).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 486 | Belgian Blue (Cattle) | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | ADAMTS2 | delins, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 7 | g.2017035_2017051delinsAGC | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000328-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. | |
| 2020 | Malfait, F., Castori, M., Francomano, C.A., Giunta, C., Kosho, T., Byers, P.H. : |
| The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64, 2020. Pubmed reference: 32732924. DOI: 10.1038/s41572-020-0194-9. | |
| 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. | |
| 1970 | O'Hara, P.J., Read, W.K., Romane, W.M., Bridges, C.H. : |
| A collagenous tissue dysplasia of calves. Lab Invest 23:307-14, 1970. Pubmed reference: 5466702. | |
| 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
- Changed by Tosso Leeb on 02 Jun 2022
- Changed by Imke Tammen2 on 19 Jun 2023