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Neuropathy, Sensory
Breed: Border Collie
Generic Phene Data
Breeds
Relevance Rating: There is strong evidence or research available in this breed
General
Disease Name
Neuropathy, Sensory
OMIA
2032
Gene Name
FAM134B
Mutation
6.47 Mb inversion
Mutation Notes
6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639
Test Type
Genetic Disease/Disorder
Details
Sensory neuropathy (SN) causes severe, progressive degeneration of sensory and motor nerve cells. Signs include: knuckling of the feet, self-mutilation, excessive licking, progressive ataxia, and a progressive loss of sensation in limbs - progressing to include incontinence and regurgitation. Age of onset 2-7 months. As quality of life is severely affected, dogs with SN are euthanised before two years of age.
Details 2
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age... Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population. (From Forman et al, 2017)
Published
Forman, O.P., Hitti, R.J., Pettitt, L., Jenkins, C.A., O'Brien, D.P., Shelton, G.D., De Risio, L., Gutierrez Quintana, R., Beltran, E., Mellersh, C. : An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda) :, 2016. Pubmed reference: 27527794. DOI: 10.1534/g3.116.027896.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Breed-specific 1
Border Collie
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease in Border collies. RNA seq data indicates expression of gene is altered. Forman et al., (2016) An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda), 6, 2687-92.
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
FAM134B
Mutation
6.47 Mb inversion
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel
Breed
OMIA
Gene Name
FAM134B
Mutation
Complex Rearrangement
Nature of test
mutation test
FCI Number
297
GTP Breed
Border Collie
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
Gene Name
FAM134B
Mutation
6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639
This test is outsourced to:
Weatherby's
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
FAM134B
Mutation
Complex Rearrangement
Nature of test
mutation test
FCI Number
297
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
FAM134B
Mutation
6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
FAM134B
Mutation
6.47 Mb inversion
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
FAM134B
Mutation
6.47 Mb inversion was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639
Mutation Comment
g.80439639_86910352inv
Nature of test
mutation test
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