Maroteaux-Lamy syndrome: five novel mutations and their structural localization

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autos omal recessive disorder due to the deficiency of the lysosomal enzyme N-ace tylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in M aroteaux-Lamy syndrome resulted in the identification of approximately 40 m olecular defects underlying a great genetic heterogeneity. Here we report f ive novel mutations in Italian subjects: S65F, P116H, R315Q, Q503X, P531R; each defect was confirmed by restriction enzyme or amplification refractory mutation system (ARMS) analysis. We also performed a three-dimensional (3- D) structure analysis of the alterations identified by us, and of an additi onal 22 point mutations reported by other groups, in an attempt to draw hel pful information about their possible effects on protein conformation. (C) 1999 Elsevier Science B.V. All rights reserved.