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Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation

General

Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
OMIA
1970
Gene Name
RAB3GAP1
Mutation
c.743delC
Mutation 2
c.614_615insLN864704:g.123_340
OMIM
600118
Test Type
Genetic Disease/Disorder
Details
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation is a polyneuropathy that paricularly seems to manifest in visual problems - small pupils, cataracts, and other eye abnormalities. Puppies with a later onset may experience altered voice, regurgitation, and gait problems progressing to ataxia. Age of onset varies by breed, ranging from 3-5 months. Dogs are typically euthanized between 8 and 16 months of age.
Details 2
In Alaskan Huskies neurological signs start at 4 to 5 months of age with visual problems. Slightly later affected dogs display an altered voice due to laryngeal paralysis, regurgitation, and gait abnormalities progressing to a severe ataxia. Dogs are typically euthanized between 8 and 16 months of age. Affected dogs have bilateral microphthalmia, small pupils, and lenses with cataract. Some affected dogs additionally exhibit strabismus and/or persistent pupillary membranes (Wiedmer et al. 2015). Research suggests that some breeds may present signs earlier - from 3 months.
Published
Wiedmer, M., Oevermann, A., Borer-Germann, S.E., Gorgas, D., Shelton, G.D., Drögemüller, M., Jagannathan, V., Henke, D., Leeb, T. : A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda) 6:255-62, 2015. Pubmed reference: 26596647. DOI: 10.1534/g3.115.022707.
Published 2
Mhlanga-Mutangadura, T., Johnson, G.S., Schnabel, R.D., Taylor, J.F., Johnson, G.C., Katz, M.L., Shelton, G.D., Lever, T.E., Giuliano, E., Granger, N., Shomper, J., O'Brien, D.P. : A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis 86:75-85, 2016. Pubmed reference: 26607784. DOI: 10.1016/j.nbd.2015.11.016.
Body/System/Process
Neurologic
Inheritance
AR
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