Search Term: Neuronal Ceroid Lipofuscinosis 8 (NCL8)
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
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)
OMIM
600143
Disease Code
NCL8
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
Gene Name Text
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
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.
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Toronto, Ontario
CA
CA
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Columbia, Missouri
US
US
Orthopedic Foundation for Animals
HGTD Leadership Sponsor Test Discovery- GTP Non-Participant Out Sourced Testing
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR