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Neuronal Ceroid Lipofuscinosis 5 (NCL5)

Breed: Poodle Crosses

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
Agrotis S.r.l.
Anicom Specialty Medical Institute Inc.
BioBank AS
Certagen GmbH
CMSCH
INNO
Laboratorios Labocor S.L.
Paw Print Genetics
PharmaDNA
Progènes-ADN
VHL Genetics
Zoolyx

General

Disease Name
Neuronal Ceroid Lipofuscinosis 5 (NCL5)
OMIA
1482
Gene Name
CLN5
Mutation
c.619C>T
Mutation 2
c.934_935delAG
Test Type
Genetic Disease/Disorder
Key Comments
Golden Retrievers and their crosses: Rare, but has appeared unexpectedly in some breeding lines
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. Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
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. Symptoms (18-24 months of age): vision loss, poor coordination, behavioural changes (aggression, hyperactivity and dementia)
Published
Melville, SA., Wilson, CL., Chiang, CS., Studdert, VP., Lingaas, F., Wilton, AN. : A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005. Pubmed reference: 16033706. DOI: 10.1016/j.ygeno.2005.06.005.
Published 2
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231. DOI: 10.1016/j.ymgme.2015.04.001.
Published 3
2019 Villani, N.A., Bullock, G., Michaels, J.R., Yamato, O., O'Brien, D.P., Mhlanga-Mutangadura, T., Johnson, G.S., Katz, M.L. : A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 127:107-115, 2019. Pubmed reference: 31101435. DOI: 10.1016/j.ymgme.2019.04.003.
Published 4
2016 Kolicheski, A., Johnson, G.S., O'Brien, D.P., Mhlanga-Mutangadura, T., Gilliam, D., Guo, J., Anderson-Sieg, T.D., Schnabel, R.D., Taylor, J.F., Lebowitz, A., Swanson, B., Hicks, D., Niman, Z.E., Wininger, F.A., Carpentier, M.C., Katz, M.L. : Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016. Pubmed reference: 27203721. DOI: 10.1111/jvim.13971.
Body/System/Process
Metabolic
Inheritance
AR

Breed Specific Info

Researched Breeds
Australian Cattle Dogs, Golden Retriever, Border Collie

Key Comment

Villani et al. (2019) reported the c.619C>T variant to be homozygous in an affected mixed-breed dog of unknown parentage. They also reported a 87kb haplotype including the variant that is shared by this affected dog and the breeds in which this variant has been previously reported. Villani et al. (2019) concluded "that the NCL in all of these dogs stems from the same founding mutation event that may have predated the establishment of the modern dog breeds. If so, the CLN5 nonsence allele is probably segregating in other, as yet unidentified, breeds. Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed."

HSP Test-Specific Data

Agrotis S.r.l.

GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Anicom Specialty Medical Institute Inc.

GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

BioBank AS

GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Certagen GmbH

GTP
GTP Name
Glycogen Storage Disease VII (GSD VII)
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

CMSCH

GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

INNO

GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Laboratorios Labocor S.L.

GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Paw Print Genetics

GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
Nature of test
mutation test
FCI Number
-58

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Progènes-ADN

GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

VHL Genetics

GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG

Zoolyx

GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN5
Mutation
c.934_935delAG
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