Peer-reviewed veterinary case report
Beagles with vitamin B12 absorption problem caused by CUBN gene
By Drögemüller, Michaela et al.·Published in Animal genetics·2014·Institute of Genetics·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).
- Species:
- dog
Plain-English summary
A 3-year-old Beagle was diagnosed with Imerslund-Gräsbeck syndrome, a condition that causes selective malabsorption of vitamin B12. The dog showed symptoms related to low vitamin B12 levels, which can lead to various health issues. Genetic testing revealed a specific mutation in the cubilin gene that prevents proper absorption of this essential vitamin. Understanding this genetic cause can help veterinarians manage the dog's condition more effectively, potentially through dietary adjustments or supplements to ensure adequate vitamin B12 intake.
People also search for: Beagle vitamin B12 deficiency · Imerslund-Gräsbeck syndrome treatment · dog cobalamin absorption issues
Abstract
Mammals are unable to synthesize cobalamin or vitamin B12 and rely on the uptake of dietary cobalamin. The cubam receptor expressed on the intestinal endothelium is required for the uptake of cobalamin from the gut. Cubam is composed of two protein subunits, amnionless and cubilin, which are encoded by the AMN and CUBN genes respectively. Loss-of-function mutations in either the AMN or the CUBN gene lead to hereditary selective cobalamin malabsorption or Imerslund-Gräsbeck syndrome (IGS). We investigated Beagles with IGS and resequenced the whole genome of one affected Beagle at 15× coverage. The analysis of the AMN and CUBN candidate genes revealed a homozygous deletion of a single cytosine in exon 8 of the CUBN gene (c.786delC). This deletion leads to a frameshift and early premature stop codon (p.Asp262Glufs*47) and is, thus, predicted to represent a complete loss-of-function allele. We tested three IGS-affected and 89 control Beagles and found perfect association between the IGS phenotype and the CUBN:c.786delC variant. Given the known role of cubilin in cobalamin transport, which has been firmly established in humans and dogs, our data strongly suggest that the CUBN:c.786delC variant is causing IGS in the investigated Beagles.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/24164695/