OMIA 001505-9940 : Neuronal ceroid lipofuscinosis, 10 in Ovis aries

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 610127

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Species-specific name: Congenital ovine NCL

Species-specific symbol: CONCL

History: The first report of this disorder was by Jarplid and Haltia (1993).

Molecular basis: By cloning and sequencing a very likely candidate gene (based on "a striking deficiency of [lysosomal enzyme] cathepsin D activity in the CONCL brain and liver compared with controls"), Tyynelä et al. (2000) reported the causal mutation in Swedish Landrace as being "A single nucleotide mutation [G->A] in the cathepsin D gene [CTSD] results in conversion of an active site aspartate to asparagine, leading to production of an enzymatically inactive but stable protein."

Note that NCBI Gene lists the CTSD gene in sheep as LOC443060.

Breed: Swedish Landrace.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC443060 cathepsin D-like Ovis aries - no genomic information (-..-) LOC443060 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Swedish Landrace Neuronal ceroid lipofuscinosis, 10 LOC443060 missense c.934G>A p.D295N 2000 10856224

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.
2000 Tyynelä, J., Sohar, I., Sleat, D.E., Gin, R.M., Donnelly, R.J., Baumann, M., Haltia, M., Lobel, P. :
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration EMBO Journal 19:2786-2792, 2000. Pubmed reference: 10856224. DOI: 10.1093/emboj/19.12.2786.
1993 Jarplid, B., Haltia, M. :
An Animal Model of the Infantile Type of Neuronal Ceroid- Lipofuscinosis Journal of Inherited Metabolic Disease 16:274-277, 1993. Pubmed reference: 8411979.

Edit History


  • Created by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 18 Sep 2012
  • Changed by Frank Nicholas on 20 Aug 2013
  • Changed by Frank Nicholas on 12 Dec 2017