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JASBB Baner text

Vol. 37 No. 2 (2019)

Articles

Imerslund-Gräsbeck syndrome – a rare genetic disorder of different breeds of dogs

DOI: https://doi.org/10.24326/jasbb.2019.2.1
Submitted: July 24, 2019
Published: 2019-12-16

Abstract

Imerslund-Grasbeck syndrome (IGS, dysfunction of intestinal cobalamin absorption) is a rare autosomal recessive disorder occurring in dogs and people. IGS is caused by CUBM or AMN gene mutations, which encode proteins that are subunits of the kubilin-amnionlessin receptor complex, responsible for the absorption of cobalamin (vitamin B12) in the small intestine. The most common cause of the disease is mutation c.786delC or c.8392delC in CUBM gene. As a result, the reading frame is shifted, a premature stop codon is generated, and consequently the mRNA undergoes degradation. IGS was identified in various breeds of dogs, including Border Collies, Australian Shepherds and Giant Schnauzers. Clinical symptoms occur in young dogs and are observed around 8–12 weeks of age due to a depletion of vitamin B12 in the liver. The first symptoms of IGS are a loss of appetite and abnormal development of puppies associated with anemia and proteinuria.

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