Familial Narcolepsy in Dogo Argentino Dogs Is Caused by a Tandem Duplication Mutation in HCRTR2.

ABSTRACT:

Background

Familial narcolepsy in dogs has been associated with mutations in the HCRTR2 gene in Labrador retrievers, dachshunds, and Doberman pinschers, with the causal mutation differing between breeds.

Objective

To characterize the genetic mutation responsible for familial narcolepsy in Dogo Argentino dogs.

Animals

Ten Dogo Argentino dogs, three narcoleptic and seven clinically normal, of which four were related and three were unrelated to the narcoleptic dogs.

Methods

Case control prospective study. DNA was extracted from blood samples of all dogs. Whole-genome sequencing was performed on two affected dogs, and variants were identified using bioinformatic pipelines, with comparisons made to a database of 2766 dogs. Structural variants were validated through

SUBMITTER: Mondino A 

PROVIDER: S-EPMC11912018 | biostudies-literature | 2025 Mar-Apr

REPOSITORIES: biostudies-literature