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OMIA 001672-9615 : Hyperoxaluria, primary, type I (Oxalosis I) in Canis lupus familiaris

In other species: sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 259900 , 604285

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Molecular basis: Exon sequencing of the candidate gene AGXT in Coton du Tulear dogs by Vidgren et al. (2012) revealed a missense mutation to be the cause of this disorder; specifically "a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser)".

Breeds: Coton de Tulear, Tibetan spaniel.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC607355 serine--pyruvate aminotransferase, mitochondrial Canis lupus familiaris 25 NC_006607.3 (50717157..50725297) LOC607355 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
Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) AGXT missense CanFam3.1 25 g.50968854G>A c.304G>A p.G102S 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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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.
2012 Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. :
Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x.
1991 Danpure, C.J., Jennings, P.R., Jansen, J.H. :
Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta 1096:134-8, 1991. Pubmed reference: 1672096.
1990 Jansen, J.H., Arnesen, K. :
Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol 103:79-84, 1990. Pubmed reference: 2394849.

Edit History


  • Created by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011