OMIA:001482-9913 : Neuronal ceroid lipofuscinosis, 5 in Bos taurus (taurine cattle) |
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 256731 (trait) , 608102 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2006
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN5; NCL5
History: The first reports of this disorder in cattle were by Harper et al. (1988) and Jolly et al. (1992).
Mapping: Houweling et al. (2006; Cytogenet Genome Res 115:5-6) used a radiation hybrid panel to physically map the bovine CLN5 gene to chromosome BTA21, which is homologous with the location of human CLN5 on HSA13q21–q23.
Molecular basis: Using the comparative positional candidate gene approach (based on similarities of the bovine clinical signs with the homologous human disorder, and the mapping results mentioned above), Houweling et al. (2006; Biochim Biophys Acta 1762:890-7) sequenced CLN5 genomic DNA and cDNA from affected and normal Devon cattle, identifying the causal mutation as a "single base duplication in exon 4 of bovine CLN5 (c.662dupG) . . . . This duplication results in a frameshift, predicted to introduce a premature termination codon six amino acids downstream of the duplication site resulting in the loss of 132 C-terminal amino acids".
Breed:
Devon (Cattle) (VBO_0000192).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CLN5 | ceroid-lipofuscinosis, neuronal 5 | Bos taurus | 12 | NC_037339.1 (52105313..52113148) | CLN5 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 593 | Devon (Cattle) | Neuronal ceroid lipofuscinosis, 5 | CLN5 | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 12 | g.52112732_52112733insG | c.662_663insG | p.(R221Gfs*6) | 2006 | 16935476 | Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) 210909: after checking the genome assembly sequence, FN changed g.52461241insG to g.52461241_52461242insG; and c.662insG to c.662_663insG |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:001482-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2021 | Basak, I., Wicky, H.E., McDonald, K.O., Xu, J.B., Palmer, J.E., Best, H.L., Lefrancois, S., Lee, S.Y., Schoderboeck, L., Hughes, S.M. : |
| A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cell Mol Life Sci 78:4735-63, 2021. Pubmed reference: 33792748. DOI: 10.1007/s00018-021-03813-x. | |
| 2013 | Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. : |
| Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009. | |
| Okazaki, H., Jonas, E. , Thomson, P.C., Tammen, I. : | |
| Bovine neuronal ceroid lipofuscinosis in Australian Devon cattle. Proceedings of the Association for the Advancement of Animal Breeding and Genetics 20:203-206, 2013. | |
| 2006 | Houweling, PJ., Cavanagh, JA., Palmer, DN., Frugier, T., Mitchell, NL., Windsor, PA., Raadsma, HW., Tammen, I. : |
| Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. Biochim Biophys Acta 1762:890-7, 2006. Pubmed reference: 16935476. DOI: 10.1016/j.bbadis.2006.07.008. | |
| Houweling, PJ., Cavanagh, JA., Tammen, I. : | |
| Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6. Cytogenet Genome Res 115:5-6, 2006. Pubmed reference: 16974076. DOI: 10.1159/000094793. | |
| 1992 | Jolly, R.D., Gibson, A.J., Healy, P.J., Slack, P.M., Birtles, M.J. : |
| Bovine Ceroid-Lipofuscinosis - Pathology of Blindness New Zealand Veterinary Journal 40:107-111, 1992. | |
| 1991 | Martinus, R.D., Harper, P.A.W., Jolly, R.D., Bayliss, S.L., Midwinter, G.G., Shaw, G.J., Palmer, D.N. : |
| Bovine Ceroid-Lipofuscinosis (Batten Disease) - The Major Component Stored Is the DCCD-Reactive Proteolipid, Subunit-C, of Mitochondrial ATP Synthase Vet Res Commun 15:85-94, 1991. Pubmed reference: 1829867. DOI: 10.1007/BF00405140. | |
| 1988 | Harper, P.A.W., Walker, K.H., Healy, P.J., Hartley, W.J., Gibson, A.J., Smith, J.S. : |
| Neurovisceral ceroid-lipofuscinosis in blind Devon cattle Acta Neuropathol 75:632-6, 1988. Pubmed reference: 3376766. DOI: 10.1007/BF00686210. |
Edit History
- Created by Frank Nicholas on 27 Oct 2010
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 20 Aug 2013
- Changed by Frank Nicholas on 01 Oct 2015