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Polyneuropathy (Leonberger Type 2)

Polyneuropathy (LPN2), or Leonberger Type 2, is an inherited neurological disease in dogs, characterized by muscle weakness, atrophy, and difficulty walking.

Affected Genes: GJA9

Inheritance: Autosomal Dominant With Incomplete Penetrance

Variant(canFam6):
chr15:4100854-4100855: 2bp deletion AG

Breed: Leonberger

References:
Becker D, Minor KM, Letko A, Ekenstedt KJ, Jagannathan V, Leeb T, Shelton GD, Mickelson JR, Drögemüller C. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics. 2017 18(1):662.

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 10(10):e1004635.