G6-Sulfatase Deficiency (G6S)

G6-Sulfatase Deficiency (G6S) is a genetic disorder that affects Nubian goats and related crosses. A mutation in the N-acetylglucosamine-6-sulfatase gene responsible for degrading complex polysaccharides leads to an inactive enzyme that lacks normal function. This can result in lysosomal accumulation of uncatabolized heparin sulfate glycosaminoglycans material in tissues such as the central nervous system and soft internal organs. Symptoms for affected goats can include delayed motor development, growth retardation, and will typically lead to early death.

These goats have two copies of the normal gene and will neither develop G6-Sulfatase Deficiency nor pass this mutation to their offspring.

These goats have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop G6-Sulfatase Deficiency but will, if bred, pass the mutation to 50% of its offspring, on average.

These goats have two copies of the mutation associated with G6-Sulfatase Deficiency which results in delayed motor development, growth retardation, and death.

Additional Details

Publication:

Cavanagh, K.T., Leipprandt, J.R., Jones, M.Z., & Friderici, K. (1995). Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 59-region of the coding sequence. Journal of Inherited Metabolic Disease, 18(1), 96. [PubMed: 7623459].