![]() One pseudodeficiency allele, one polymorphism causing an amino acid change, and one silent variant in the coding region are also described. ![]() This heterogeneity in GUS gene mutations contributes to the extensive clinical variability among patients with MPS VII. We summarize information on the 49 unique, disease-causing mutations determined so far in the GUS gene, including nine novel mutations (eight missense and one splice-site). ![]() Accumulation of undegraded GAGs in lysosomes of affected tissues leads to mental retardation, short stature, hepatosplenomegaly, bone dysplasia, and hydrops fetalis. GUS is required to degrade glycosaminoglycans (GAGs), including heparan sulfate (HS), dermatan sulfate (DS), and chondroitin-4,6-sulfate (CS). Mucopolysaccharidosis VII (MPS VII Sly syndrome) is an autosomal recessive disorder caused by a deficiency of β-glucuronidase (GUS, EC 3.2.1.31 GUSB).
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