[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome].

ABSTRACT

Maroteaux-Lamy syndrome (MLS, also known as Mucopolysaccharidosis VI) is an inherited lysosomal disease due to a deficiency of the enzyme arylsulfatase B (ASB). Clinically, severe, intermediate and mild types are classified according to the symptoms and the age of onset. In recent years, several cases have been reported in which various mutations have been found by sequence analysis of ASB cDNA or genomic DNA. All of these mutations were reported occurred in single patients. Here I report a severe type MLS patient. A new point mutation was found on ASB gene which resulted in a stop codon at ASB peptide 421 (Glu). Due to this point mutation, a peptide fragment composed of 112 amino acids should have been deleted out. This point mutation was confirmed as a homoallele by direct sequence analysis of genomic DNA. Expression experiment on this point mutation revealed that the mutant produced neither mature ASB protein nor enzyme activity.