NHLRC1 repeat expansion in two beagles with Lafora disease
| Autor: | Peixiang Wang, Clare Rusbridge, I. Hajek, F. Kettner, V. Simerdova, Berge A. Minassian, V. Palus |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty 040301 veterinary sciences business.industry Repeat sequence Genetic disorder Genetic variants 04 agricultural and veterinary sciences Disease medicine.disease Lafora disease 0403 veterinary science 03 medical and health sciences 030104 developmental biology Carrier protein Mutation (genetic algorithm) Medicine Small Animals business Trinucleotide repeat expansion |
| Zdroj: | Journal of Small Animal Practice. 57:650-652 |
| ISSN: | 0022-4510 |
| DOI: | 10.1111/jsap.12593 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text