Imerslund-Gräsbeck syndrome. Selective intestinal cobalamin (vitamin B12) malabsorption
Symptoms Growth retardation, lethargy, anorexia
Gene involved CUBN
Mutation tested c.8392delC
Transmission mode : Autosomal recessive
Publication : Fyfe et al. (2013). An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Gene involved CUBN
Mutation tested c.786delC
Transmission mode : Autosomal recessive
Publication :
Fyfe et al. (2014). Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.
Drögemüller et al. (2014). A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).