Mucopolysaccharidosis VII / MPS VII 3 variants (GUSB-related) - Cat

Mucopolysaccharidosis VII in cats

This genetic test examines three GUSB markers for mucopolysaccharidosis VII in cats. The condition is also known as MPS VII, Sly syndrome or beta-glucuronidase deficiency. One subanalysis detects c.1051G>A; two other subanalyses detect the two nucleotide components of the described GUSB haplotype.

Disease picture and names

MPS VII is a lysosomal storage disease in which glycosaminoglycans accumulate because beta-glucuronidase activity is insufficient. Affected cats can develop slow growth, walking problems, corneal clouding, a broad head and severe skeletal changes.

Why this test is useful

• The test combines three relevant GUSB signals in one panel.
• Breeders can distinguish clear cats, carriers and genetically affected cats more precisely.
• The haplotype components are evaluated together so the result is interpreted biologically correctly.

MPS VII is inherited as autosomal recessive: two disease-causing GUSB alleles cause the condition.