UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory
G6-Sulfatase Deficiency(G6-S, MPSIIID)

Introduction

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 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.

The VGL offers a test for G6-Sulfatase deficiency in goats. Breeders can use results from the 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.

ORDER TEST | PRICE LIST
Allow 2-6 business days for results.

Results are reported as :

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.

Reference:

Cavanagh KT, Leipprandt JR, Jones MZ, and 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. J Inherit Metab Dis 18:96.

Clavijo A, Sun F and Sneed L (2010) Diagnosis of Caprine Mucopolysaccharidosis Type IIID by Real-Time Polymerase Chain Reaction-Based Genotyping. J Vet Diagn Invest 22: 622-27.

 
Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL