title: The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa.
abstract: Dermatosparaxis is a heritable collagen dysplasia causing skin extensibility and fragility. In Belgian Blue cattle this mutation has been described as a 3 base pair (bp) change followed by a 17bp deletion in the gene coding for procollagen 1 N-Proteinase (pNPI). An outbreak in a commercial Drakensberger herd in South Africa followed the introduction in late 2000 of a 3-year-old bull that developed skin lesions in 2001 and was culled in 2002. Some of his offspring were similarly affected, 1 of which was kept as a breeding bull after his sire's death. Two affected calves were referred to the Onderstepoort Veterinary Academic Hospital in October 2005. Detailed examination revealed only skin abnormalities limited to the lateral extremities of the thorax, abdomen and pelvis, viz. either acute lacerations of varying sizes, slow healing defects or thin scars in chronic cases. During a subsequent farm visit, 13 animals with similar wounds were seen in the herd of 146 animals. Electron microscopic examination of skin biopsies revealed haphazard arrangement and loose packing of dermal collagen fibrils within collagen fibres. The fibrils showed size variation and slightly irregular outlines on cross-section, consistent with mild dermatosparaxis. DNA samples of affected calves were analysed using primers designed to amplify the region of the pNPI gene that contained the mutation described in Belgian Blue cattle, but this mutation could not be demonstrated in any of the animals tested. It is concluded that a form of dermatosparaxis with a different gene mutation from that described in Belgian Blue cattle exists in Drakensberger cattle in South Africa. This possibly also explains the milder and more delayed clinical signs and the milder dermal collagen ultrastructural abnormalities.
authors.affiliation: Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, 0110 South Africa. dietmar.holm@up.ac.za
authors.forename: D E
authors.initials: DE
authors.lastname: Holm
authors.forename: E
authors.initials: E
authors.lastname: van Wilpe
authors.forename: C K
authors.initials: CK
authors.lastname: Harper
authors.forename: N M
authors.initials: NM
authors.lastname: Duncan
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D003094:Collagen / Q000378:metabolism; D004196:Disease Outbreaks / Q000662:veterinary; D005260:Female; D008297:Male; D009154:Mutation; D011348:Procollagen N-Endopeptidase / Q000235:genetics*; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D013019:South Africa / Q000453:epidemiology
chemical_list: D003094:Collagen; D011348:Procollagen N-Endopeptidase