Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related
- Phene ID
- 35
- Name
- Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related
- Phene Name
- Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis); dermatosparaxis
- OMIA ID
- 328
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1999
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| ADAMTS2 | 282401 | 7 | ADAM metallopeptidase with thrombospondin type 1 motif 2 |
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 486 | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | 282401 | 1 | 7 | g.2017035_2017051delinsAGC | c.464_480delinsAGC | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
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].
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.