Affected gene: ARHGEF10
Inheritance: Autosomal recessive
Mutation: CanFam3.1 16 g.54349199_54349208del c.1955_1958+6del (del CACGGTGAGC)OMIA link: 001917-9615
Appropriate breeds for testing: Leonberger and Saint Bernard
Symptoms:
Polyneuropathy is characterized by peripheral nerve damage and results in loss of muscle tone and atrophy, and general weakness around the age of 2 years. Respiratory problems and abnormal barking due to laryngeal paralysis are also seen.
References:
Ekenstedt KJ, Becker D, Minor KM, Shelton GD, Patterson EE, Bley T, Oevermann A, Bilzer T, Leeb T, Drögemüller C, Mickelson JR. An ARHGEF10 deletion in highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs. PLoS Genet. 2014 Oct 2;10(10):e1004635. [PubMed: 25275565]
Polyneuropathy 1 (LPN1)- Leonberger And Saint-Bernard
5 tests et + 55$ch.
Délais de traitement
Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.