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Neuronal Ceroid Lipofuscinosis 8 (NCL8)
Breed: Alpine Dachsbracke
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Mutation Comment
g.30852988_30902901del
Nature of test
mutation test
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
CLN8
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
254
GTP Breed
Alpine Dachsbracke
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN8
Mutation
deletion, gross (>20)
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