title: Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.
abstract: Two newborn Belgian Blue calves from a farm in the United Kingdom exhibited lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation. DNA sequence analysis indicated that both calves were homozygous for the recessive congenital muscular dystonia type 2 (CMD2) mutation (c.809T>C, p.Leu270Pro) in SLC6A5, encoding the neuronal glycine transporter GlyT2. Further testing of animals from the index farm and a sample of Belgian Blue sires revealed an unexpectedly high frequency of CMD2 carriers. This implies that linked quantitative trait loci may be influencing the prevalence of CMD2 in the estimated 55,000 Belgian Blue cattle in the United Kingdom. We have therefore developed new inexpensive tests for the CMD2 allele that can be used to confirm diagnosis, identify carriers and guide future breeding strategy, thus avoiding animal distress/premature death and minimizing the future economic impact of this disorder.
authors.affiliation: Department of Pharmacology, The School of Pharmacy, London, UK. jennifer.gill@ucl.ac.uk
authors.forename: J L
authors.initials: JL
authors.lastname: Gill
authors.forename: V M
authors.initials: VM
authors.lastname: James
authors.forename: E
authors.initials: E
authors.lastname: Carta
authors.forename: D
authors.initials: D
authors.lastname: Harris
authors.forename: M
authors.initials: M
authors.lastname: Topf
authors.forename: S F E
authors.initials: SF
authors.lastname: Scholes
authors.forename: G
authors.initials: G
authors.lastname: Hateley
authors.forename: R J
authors.initials: RJ
authors.lastname: Harvey
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000151:congenital / Q000235:genetics*; D004421:Dystonia / Q000151:congenital / Q000235:genetics / Q000662:veterinary*; D005260:Female; D005820:Genetic Testing / Q000379:methods* / Q000662:veterinary; D060005:Genotyping Techniques / Q000662:veterinary; D050487:Glycine Plasma Membrane Transport Proteins / Q000235:genetics*; D006579:Heterozygote; D008297:Male; D009132:Muscles / Q000503:physiopathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D040641:Quantitative Trait Loci; D017422:Sequence Analysis, DNA / Q000662:veterinary; D006113:United Kingdom; D014743:Videotape Recording
chemical_list: D050487:Glycine Plasma Membrane Transport Proteins