A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopoh saccharidosis type Ⅵ

摘要

Mucopolysaccharidoses ( MPS) are lysosomal storage diseases with defective degradation of glycosa-minoglycans. Mucopolysaccharidosis type Ⅵ ( MPS Ⅵ) or Maroteaux-Lamy syndrome is caused by defective arylsulfatase B in the lysosomes ( ARSB; N-acetylgalactosamine-4-sulfatase, EC 3.1.6.12) . The clinical manifestations of MPS Ⅵ include coarse facial features, growth retardation, short stature, skeletal malformations, hepatosplenomegaly, corneal clouding, and cervical myelopathy. Heart failure is the usual cause of death in the second or third decade of life. Despite all the physical disabilities, the intellect of MPS Ⅵ patients is preserved. Up to date, 47 mutations have been reported in the ARSB gene (Human Gene Mutation Database) , with a majority of them being missense or nonsense mutations. In this study, we have performed DNA-based diagnosis of MPS Ⅵ in a family with two siblings with the disease.