Goat Diagnostic Tests
Mucopolysaccharidosis IIID in goats occurs by deficiency in N-acetylglucosamine-6-sulfatase enzyme (G6S) activity. The G6S enzyme deficiency is associated with a single mutation (c.304C>T) that creates a premature stop codon in G6S protein. The G6S mutation is a simple recessive gene, and it is common in Nubian breed. A goat with 2 copies of a wild-type allele appears normal and this is called Normal (NN). A goat with 1 copy of mutation will appear normal and this is designated a carrier (NG). A goat with 2 copies of mutation exhibits the deficiency and this designated Affected (GG). The affected kid goats are delayed in their nervous system development. Therefore, they exhibit delayed growth and eventual early death.