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Neuronal Ceroid Lipofuscinosis 8 (NCL8)
Breed: English 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
GTPs
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
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
FCI Number
2
GTP Breed
English Setter
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
2
GTP Breed
English Setter
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL 8
Gene Name
CLN8
Mutation
c.491T>C
Mutation Comment
g.30874779T>C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
Gene Name
COL1A
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CLN8
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
2
GTP Breed
English Setter
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
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
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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-
Application in the Breed
Carriers may be bred to normal animals (N/ncl8 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ncl8 x N/ncl8) nor of affected animals (ncl8/ncl8). Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Inheritance
AR
FCI Number
2
GTP Breed
English Setter
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN8
Mutation
c.4911T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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