Mucopolysaccharidosis IIB, MPSIIB

Gene: NAGLU

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Insertion, NAGLU gene; c.2110_2111 duplication 11 pb, insertion 40 to 70 nt  A

Medical system: Neurological, lysosomal storage disease

Breeds: Schipperke

References:

OMIA link: [1342-9615]

Raj, K., Ellinwood, N.M., Giger, U. (2020) An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Sci Rep 10:3170.  [pubmed/32081995]

Story BD, Miller ME, Bradbury AM, et al. (2020) Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80. [pubmed/32219101]

Ellinwood NM, Wang P, Skeen T, et al. (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26:489-504.  [pubmed/14518829]