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Phenotype: Goats affected by G6-Sulfatase deficiency exhibit delayed motor development, growth retardation, and early death.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal/Unaffected, G = G6-Sulfatase deficiency
Breeds appropriate for testing: Nubian and breeds derived from Nubian stock
Explanation of Results:
- Goats with N/N genotype will not have G6-Sulfatase deficiency and cannot transmit this G6-Sulfatase deficiency variant to their off spring.
- Goats with N/G genotype will not be affected by G6-Sulfatase deficiency, but are carriers. They may transmit this G6-Sulfatase deficiency variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% G6-Sulfatase deficiency-affected kids.
- Goats with G/G genotype will have G6-Sulfatase deficiency, a condition leading to delayed development and early death.
G6-Sulfatase deficiency is an inherited metabolic defect that occurs in Nubian goats and related crosses. A mutation in the G6-S gene renders the enzyme incapable of degrading complex polysaccharides known as heparin-sulfate glycosaminoglycans (HS-GAGs) which then abnormally accumulate in tissues such as the central nervous system and viscera. Clinically, affected goats exhibit delayed motor development, growth retardation, and early death.
The disease is inherited in an autosomal recessive fashion. Therefore, both sexes are equally affected and two copies of the defective gene must be present for signs of the disorder to be observed. Breeding two carrier goats, which are normal but each possesses a single copy of the mutation, is predicted to produce 25% affected offspring.
Breeders can use results from this test as a tool for selection of mating pairs to avoid producing affected kids. The test is recommended for Nubian goats and breeds derived from Nubian stock.
Species
Breed
| Test Result | G6-Sulfatase Deficiency |
|---|---|
| N/N | Normal. Goat does not have G6-S mutation. |
| N/G | Carrier. Goat has one copy of G6-S mutation, but is unaffected. |
| G/G | Affected. Goat has two copies of G6-S mutation. |
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. doi: 10.1007/BF00711390
Jones, M.Z., Alroy, J., Boyer, P.J., Cavanagh, K.T., Johnson, K., Gage, D., Vorro, J., Render, J.A., Common, R.S., Leedle, R.A., Lowrie, C., Sharp, P.M., Liour, S.S., Levene, B.A., Hoard, H.M., Lucas, R., & Hopwood, J.J. (1998). Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. Journal of Neuropathology and Experimental Neurology, 57(2), 148–157. doi: 10.1097/00005072-199802000-00006
Clavijo, A., Sun, F., & Sneed, L. (2010). Diagnosis of Caprine Mucopolysaccharidosis Type IIID by Real-Time Polymerase Chain Reaction-Based Genotyping. Journal of Veterinary Diagnostic Investigation, 22(4), 622-627. doi: 10.1177/104063871002200421
