OMIA 001482-9940 : Neuronal ceroid lipofuscinosis, 5 in Ovis aries

In other species: dog , cattle

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: 2008

History: This disorder in sheep was first reported by Jolly et al. (2002) in Borderdale breed in New Zealand.

Molecular basis: Using the comparative positional candidate gene approach, Frugier et al. (2008) discovered the causative mutation in the Borderdale breed to be "a substitution at a consensus splice site (c.571+1G>A) [of the CLN5 gene], leading to the excision of exon 3 and a truncated putative protein."

Breed: Borderdale.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CLN5 ceroid-lipofuscinosis, neuronal 5 Ovis aries 10 NC_040261.1 (56306694..56317500) 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
Borderdale Neuronal ceroid lipofuscinosis, 5 CLN5 splicing c.571+1G>A 2008 17988881

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.
2018 Mitchell, N.L., Russell, K.N., Wellby, M.P., Wicky, H.E., Schoderboeck, L., Barrell, G.K., Melzer, T.R., Gray, S.J., Hughes, S.M., Palmer, D.N. :
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease. Mol Ther :, 2018. Pubmed reference: 30078766. DOI: 10.1016/j.ymthe.2018.07.015.
Russell, K.N., Mitchell, N.L., Anderson, N.G., Bunt, C.R., Wellby, M.P., Melzer, T.R., Barrell, G.K., Palmer, D.N. :
Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. Brain Behav :e01096, 2018. Pubmed reference: 30136763. DOI: 10.1002/brb3.1096.
2015 Amorim, I.S., Mitchell, N.L., Palmer, D.N., Sawiak, S.J., Mason, R., Wishart, T.M., Gillingwater, T.H. :
Molecular neuropathology of the synapse in sheep with CLN5 Batten disease. Brain Behav 5:e00401, 2015. Pubmed reference: 26664787. DOI: 10.1002/brb3.401.
Palmer, D.N., Neverman, N.J., Chen, J.Z., Chang, C.T., Houweling, P.J., Barry, L.A., Tammen, I., Hughes, S.M., Mitchell, N.L. :
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network. Biochim Biophys Acta 1852:2279-86, 2015. Pubmed reference: 26073432. DOI: 10.1016/j.bbadis.2015.06.013.
Perentos, N., Martins, A.Q., Watson, T.C., Bartsch, U., Mitchell, N.L., Palmer, D.N., Jones, M.W., Morton, A.J. :
Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep. Brain 138:862-74, 2015. Pubmed reference: 25724202. DOI: 10.1093/brain/awv026.
2014 Hughes, S.M., Hope, K.M., Xu, J.B., Mitchell, N.L., Palmer, D.N. :
Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy. Neurobiol Dis 62:543-50, 2014. Pubmed reference: 24269732. DOI: 10.1016/j.nbd.2013.11.011.
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.
2008 Frugier, T., Mitchell, NL., Tammen, I., Houweling, PJ., Arthur, DG., Kay, GW., van Diggelen, OP., Jolly, RD., Palmer, DN. :
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. Neurobiol Dis 29:306-15, 2008. Pubmed reference: 17988881. DOI: 10.1016/j.nbd.2007.09.006.
2002 Jolly, R.D., Arthur, D.G., Kay, G.W., Palmer, D.N. :
Neuronal ceroid-lipofuscinosis in Borderdale sheep New Zealand Veterinary Journal 50:199-202, 2002.

Edit History


  • Created by Frank Nicholas on 02 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 20 Aug 2013