OMIA 000405-9940 : Gaucher disease, type I in Ovis aries

In other species: dog , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 230800

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucocerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells).

Molecular basis: Karageorgos et al. (2011) reported this disorder in Southdown sheep in Australia being due to two "missense mutations c.1142G>A (p.C381Y) and c.1400C>T (p.P467L)" in the gene for β-glucocerebrosidase (GBA).

After analysis in additional animals and use of variant prediction algorithms, Zhou et al. (2017) concluded that their results "suggest that [the] c.1142G>A [variant] in exon 8 of GBA is the causative mutation of Gaucher disease in the Southdown sheep studied." In contrast, the c.1400C>T (p.P467L) variant exists in homozygous form in asymptomatic animals.

Breed: Southdown.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GBA glucosidase, beta, acid Ovis aries 1 NC_040252.1 (111577902..111555937) GBA 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
Southdown Gaucher disease, type GBA missense Oar_v3.1 1 g.103978212G>A c.1142G>A p.C381Y rs429928390 2017 29023809 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2017 Zhou, H., Zhang, Y., Suter, R., Gong, H., Fang, Q., Zhou, P., Hickford, J.G.H. :
A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep. Anim Genet :, 2017. Pubmed reference: 29023809. DOI: 10.1111/age.12613.
2011 Karageorgos, L., Lancaster, MJ., Nimmo, JS., Hopwood, JJ. :
Gaucher disease in sheep. J Inherit Metab Dis 34:209-15, 2011. Pubmed reference: 20978939. DOI: 10.1007/s10545-010-9230-3.
1968 Laws, L., Saal, JR. :
Lipidosis of the hepatic reticulo-endothelial cells in a sheep. Aust Vet J 44:416-7, 1968. Pubmed reference: 5693056.

Edit History


  • Created by Frank Nicholas on 11 Feb 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 17 Oct 2017
  • Changed by Imke Tammen2 on 17 Oct 2017