Gene involved NDRG1
Mutation tested c.293G>T
Transmission mode : Autosomal recessive
Publication : Bruun et al. (2013). A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy.
Gene involved SBF2
Mutation tested c.2363+1G>T
Transmission mode : Autosomal recessive Specificity : Symptoms tend to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia
Publication : Granger et al. (2019). Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model.
Gene involved RAB3GAP1
Mutation tested c.743delC (JLPP)
Transmission mode : Autosomal recessive
Publication : Mhlanga et al. (2016). A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Gene involved ARHGEF10
Mutation tested c.1955_1958+6del10bp (LPN1)
Transmission mode : Autosomal recessive
Publication : Ekenstedt et al. (2014). An ARHGEF10 Deletion Is Highly Associated with a Juvenile-Onset Inherited Polyneuropathy in Leonberger and Saint Bernard Dogs.
Gene involved GJA9
Mutation tested c.1107_1108delAG (LPN2)
Transmission mode : Autosomal dominant with incomplete penetrance
Publication : Becker et al. (2017). A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.
Gene involved NDRG1
Mutation tested c.1080_1089del10bp
Transmission mode : Autosomal recessive
Publication : Drögemüller et al. (2010). A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy.
Gene involved -
Mutation tested - (ALPP)
Transmission mode : Autosomal recessive
Publication : En cours / In progress