Neuronal Ceroid Lipofuscinosis 8 (NCL8)
Breed: Irish Red Setter
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Neuronal Ceroid Lipofuscinosis 8 (NCL8)
OMIA
1506
Gene Name
CLN8
Mutation
c.4911T>C
Mutation 2
c.349dupT
Mutation 3
deletion, gross (>20)
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Application Information
Mutations for this may be breed-specific. Please see breed specific information for comments.
Published
Katz, ML., Khan, S., Awano, T., Shahid, SA., Siakotos, AN., Johnson, GS. : A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-7, 2005. Pubmed reference: 15629147. DOI: 10.1016/j.bbrc.2004.12.038.
Published 2
Lingaas F, Guttersrud OA, Arnet E, Espenes A: Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet. 2018 Feb;49(1):52-58. doi: 10.1111/age.12629.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Saluki, English Setter, Australian Shepherd, German Shorthaired Pointer, Alpenlandische Dachsbracke
Breed-specific 1
Saluki
Breed-specific 1 Details
Lingaas et al. (2018) reported a likely causal variant in the Saluki breed, namely a "single bp insertion (c.349dupT) in exon 2, introducing an immediate stop codon (p.Glu117*)" Reference: 2018 Lingaas, F., Guttersrud, O.A., Arnet, E., Espenes, A.: Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018. Pubmed reference: 29446145. DOI: 10.1111/age.12629.
HSP Test-Specific Data
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C