title: Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle.
abstract: Monitoring and surveillance strategies are imperative for managing genetic defects in livestock populations in order to avoid detrimental effects on animal welfare and productivity. Recently, a number of previously unknown defects have been described in cattle, fostered by the huge progress in genome analysis and genomic selection. In response to reports about a potentially new defect in Holstein cattle, case-control studies were carried out to confirm a genetic background of the defect and to evaluate its phenotypic relevance. Eighty-five potentially affected offspring of a suspected carrier sire for the defect and 41 matched control calves were subjected to clinical and epidemiological monitoring on 39 farms. Forty-one animals, all offspring of the suspected carrier sire, showed pathognomonic tail malformations providing highly significant evidence for a congenital inherited defect, which was subsequently termed vertebral and spinal dysplasia (VSD). The defect is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis). Detailed epidemiological monitoring provided no indication of environmental factors affecting VSD. The malformations and dysfunctions associated with VSD, as well as its mode of inheritance and the genotyping of the suspected carrier sire, indicated that VSD is a defect previously not described in cattle. VSD is inherited in a dominant mode, but shows incomplete penetrance of the phenotype, which impedes unequivocal identification of VSD carriers. A direct diagnostic genetic test for VSD is available.
authors: Leibniz-Institute for Farm Animal Biology (FBN), Institute for Genome Biology, Wilhelm-Stahl-Allee 2, Dummerstorf 18196, Germany.
authors: A
authors: A
authors: Kromik
authors: Clinic for Cattle, University of Veterinary Medicine Hannover, Bischofsholer Damm 15, Hannover 30173, Germany.
authors: M
authors: M
authors: Kusenda
authors: Department of Small Animal Medicine and Surgery, University of Veterinary Medicine Hannover, Bünteweg 9, Hannover 30559, Germany.
authors: A
authors: A
authors: Tipold
authors: Department of Small Animal Medicine and Surgery, University of Veterinary Medicine Hannover, Bünteweg 9, Hannover 30559, Germany.
authors: V M
authors: VM
authors: Stein
authors: Clinic for Cattle, University of Veterinary Medicine Hannover, Bischofsholer Damm 15, Hannover 30173, Germany.
authors: J
authors: J
authors: Rehage
authors: Leibniz-Institute for Farm Animal Biology (FBN), Institute for Genome Biology, Wilhelm-Stahl-Allee 2, Dummerstorf 18196, Germany.
authors: R
authors: R
authors: Weikard
authors: Leibniz-Institute for Farm Animal Biology (FBN), Institute for Genome Biology, Wilhelm-Stahl-Allee 2, Dummerstorf 18196, Germany; Faculty of Agricultural and Environmental Sciences, University Rostock, Justus-von-Liebig-Weg, Rostock 18059, Germany. Electronic address: kuehn@fbn-dummerstorf.de.
authors: C
authors: C
authors: Kühn
mesh_terms: D000818:Animals; D016022:Case-Control Studies; D002417:Cattle; D002418:Cattle Diseases / Q000151:congenital* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D008124:Locomotion / Q000235:genetics; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D013122:Spinal Diseases / Q000151:congenital / Q000235:genetics / Q000662:veterinary*; D013623:Tail / Q000002:abnormalities*
keywords: Brachyury; Cattle; Inherited disorder; Neuronal dysfunction; Tail defect