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Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP)
Breed: Russian Black Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP)
OMIA
1970
Gene Name
RAB3GAP1
Mutation
c.743delC
Mutation 2
c.614_615insLN864704:g.123_340
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
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Alaskan Husky, Black Russian Terrier, Rottweiler
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RAB3GAP1
Mutation
c.743delC
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
Gene Name
RAB3GAP1
Mutation
c.743delC
Nature of test
mutation test
Application in the Breed
Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV)
Inheritance
AR
FCI Number
327
GTP Breed
Black Russian Terrier
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Juvenile Laryngeal Paralysis and Polyneuropathy
Gene Name
RAB3GAP1
Mutation
c.743delC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
Gene Name
RAB3GAP1
Mutation
c.743delC
Nature of test
mutation test
FCI Number
327
GTP Breed
Black Russian Terrier
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
Gene Name
RAB3GAP1
Mutation
c.743delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
GTP Disease Synonym
JLPP
Gene Name
RAB3GAP1
Mutation
c.743del
Mutation Comment
g.37908634del
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation
Gene Name
RAB3GAP1
Mutation
c.743delC
Nature of test
mutation test
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