OMIA 001482-9913 : Neuronal ceroid lipofuscinosis, 5 in Bos taurus

In other species: dog , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 256731

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CLN5 ceroid-lipofuscinosis, neuronal 5 Bos taurus 12 NC_037339.1 (52105328..52113148) CLN5 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Devon Neuronal ceroid lipofuscinosis, 5 CLN5 insertion, small (<=20) UMD3.1 12 g.52461241insG c.662insG p.Arg221GlyfsX6 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)

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.
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 Veterinary Research Communications 15:85-94, 1991. Pubmed reference: 1829867.
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 Neuropathologica 75:632-636, 1988. Pubmed reference: 3376766.

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