Narcolepsy in a family of Dogo Argentino dogs is linked to a tandem duplication in HCRTR2

In dogs, narcolepsy can be familial, and has been associated with mutations in the HCRTR-2 gene that codes for a hypocretin receptor, or secondary to diseases affecting the hypothalamus, usually characterized by low hypocretin levels. In this study we identified a novel tandem duplication mutation in the HCRTR-2 gene in Dogo Argentino dogs. This discovery emphasizes the critical role of the HCRTR-2 gene in canine narcolepsy and the diversity of mutations that can lead to this condition.