title: NHLRC1 repeat expansion in two beagles with Lafora disease.
abstract: Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.
authors.affiliation: Small Animal Referral Centre Sibra, Bratislava 84101, Slovak Republic. hajeki101@gmail.com.
authors.forename: I
authors.initials: I
authors.lastname: Hajek
authors.affiliation: Tygerberg Animal Hospital, Cape Town 7550, South Africa.
authors.forename: F
authors.initials: F
authors.lastname: Kettner
authors.affiliation: Small Animal Referral Centre Sibra, Bratislava 84101, Slovak Republic.|Department of Animal Nutrition, Faculty of Veterinary Hygiene and Ecology, University of Veterinary and Pharmaceutical Sciences Brno, Brno 612 42, Czech Republic.
authors.forename: V
authors.initials: V
authors.lastname: Simerdova
authors.affiliation: Fitzpatrick Referrals, Godalming, Surrey GU7 2QQ.|School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey GU2 7TE.
authors.forename: C
authors.initials: C
authors.lastname: Rusbridge
authors.affiliation: Program in Genetics and Genome Biology, Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario M5S, Canada.
authors.forename: B A
authors.initials: BA
authors.lastname: Minassian
authors.affiliation: Veterinary Clinic ELPA, Trencin 91105, Slovak Republic.
authors.forename: V
authors.initials: V
authors.lastname: Palus
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D005786:Gene Expression Regulation; D020192:Lafora Disease / Q000235:genetics / Q000662:veterinary*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D002352:Carrier Proteins