OMIA 001672-9940 : Hyperoxaluria, primary, type I (Oxalosis I) in Ovis aries

In other species: dog

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: 2020

Inheritance: Letko et al. (2020): "This disorder is explained by a breed-specific recessively inherited pathogenic AGXT variant."

Molecular basis: Letko et al. (2020): "Whole-genome sequencing of two affected sheep identified a missense variant in the ovine AGXT gene (c.584G>A; p.Cys195Tyr)."

Clinical features: Letko et al. (2020): "Affected animals present with a wide range of clinical signs including condition loss, inappetence, malaise, and, occasionally, respiratory signs, as well as an apparent sudden unexpected death."

Pathology: Letko et al. (2020): "Histopathology revealed widespread oxalate crystal deposition in kidneys of the cases."

Breed: Zwartbles.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AGXT alanine-glyoxylate aminotransferase Ovis aries 1 NC_040252.1 (804785..789799) AGXT 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
Zwartbles Type 1 Primary Hyperoxaluria AGXT missense Oar_rambouillet_v1.0 1 g.801189C>T c.584G>A p.Cys195Tyr NC_040252.1: g.801189C>T; XM_027966918.1: c.584G>A; XP_027822719.1: p.Cys195Tyr (Letko et al., 2020) 2020 33003365

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.
2020 Letko, A., Dijkman, R., Strugnell, B., Häfliger, I.M., Paris, J.M., Henderson, K., Geraghty, T., Orr, H., Scholes, S., Drögemüller, C. :
Deleterious <i>AGXT</i> Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. Genes (Basel) 11:, 2020. Pubmed reference: 33003365. DOI: 10.3390/genes11101147.
2015 Barley, J., Hanna, R., McConnell, S. :
Oxalate nephrosis in Zwartble sheep Veterinary Ireland Journal 5:46-48, 2015.
2011 Strugnell, B.W., Gaudie, C.M., Wessels, M., Schock, A., Davies, I. :
Severe oxalate nephropathy in Zwartbles sheep. Vet Rec 169:81, 2011. Pubmed reference: 21765146. DOI: 10.1136/vr.d4471.

Edit History


  • Created by Frank Nicholas on 03 Feb 2020
  • Changed by Frank Nicholas on 24 Oct 2020
  • Changed by Frank Nicholas on 05 Nov 2020