Imerslund-Gräsbeck Syndrome, Border Collie Type (IGS-BORD)
Cobalamin Deficiency, Cubilin Deficiency, Imerslund-Grasbeck Syndrome, Vitamin B12 Deficiency, I-GS
Imerslund-Grasbeck Syndrome (IGS), also known as intestinal cobalamin malabsorption is a disorder in which a dog is unable to absorb adequate levels of Vitamin B12. Absorption of Vitamin B12, also known as cobalamin which occurs in the small intestine is inadequate in dogs affected with IGS and leads to a deficiency in this vitamin. Dogs that inherit this disease are born with a small amount of vitamin B12 that is quickly depleted and leads to symptoms of the disease within 6-12 weeks after birth. These symptoms can include failure to thrive and gain weight, lack of appetite, anemia, and lethargy. Symptoms will typically appear to intensify after eating. IGS can be managed with regular vitamin B12 diet supplementation, however without treatment this disease can progress to permanent brain and nervous system damage.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop intestinal cobalamin malabsorption nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop intestinal cobalamin malabsorption but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are susceptible to developing intestinal cobalamin malabsorption.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
CUBN
Chromosome
Ch. 2
Mutation
C.8392delC
Publication:
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs. Mol Genet Metab. 2013 Aug;109(4):390-6. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22. [PubMed: 23746554]
