Laryngeal Paralysis (Bull Terrier)
Gene: RAPGEF6
Transmission: Complex
Mutation: Insertion, RAPGEF6 gene; c.1793_1794 ins. 36 bp, p.(I587P fs STOP 5)
Medical system: Respiratory
Breeds: Bull Terrier, Bull Terrier-Miniature
Note that laryngeal paralysis has also been associated with mutations in additional genes, including:
ARHGEF10, OMIA link: [1917-9615]
GJA9, OMIA link: [2119-9615]
RAB3GAP1, OMIA link: [1970-9615]
SBF2, OMIA link: [2284-9615]
References:
OMIA link: [2222-9615]
Hadji Rasouliha S, Barrientos L, Anderegg L, et al. (2019) A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet. 15(10):e1008416. [pubmed/3164780]
Granger N. (2011) Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J 188:274-85. [pubmed/20638305]