Mucopolysaccharidosis IIIB Schipperke Type (MPS-IIIB-SCHP)
Mucopolysaccharidosis IIIB, Sanfilippo Syndrome Type IIIB, MPS IIIB
Mucopolysaccharidosis IIIB Schipperke Type (MPS-IIIB-SCHP) is an inherited lysosomal storage disease affecting the Schipperke breed. Lysosomes are structures in the cell that degrade and recycle large molecules using enzymes. Dogs suffering from Mucopolysaccharidosis IIIB are unable to specifically break down heparan sulfate which accumulates in the lysosomes and affects the nervous system. Typically, symptoms present around 2-4 years of age and can include tremors, falling, and difficulties balancing or walking. The disease will continue to slowly progress with affected dogs typically being euthanized within a few years of diagnosis.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Mucopolysaccharidosis IIIB 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 Mucopolysaccharidosis IIIB 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 likely to develop Mucopolysaccharidosis IIIB.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
NAGLU
Chromosome
Ch. 9
Mutation
20281734-20281735: 40-70bpT+GGAAGGCATTC
Publication:
Raj K, Ellinwood NM, Giger U. An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Sci Rep. 2020 Feb 21;10(1):3170. doi: 10.1038/s41598-020-60121-3. [PubMed: 32081995]
