A NOVEL MUTATION OF THE BETA-GLUCOCEREBROSIDASE GENE ASSOCIATED WITH NEUROLOGIC MANIFESTATIONS IN 3 SIBS

We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resultin g in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of beta-glucocerebrosidase-related p olypeptides in fibroblasts. The phenotype resulting from this mutation is characterized by visceral and skeletal manifestations. In addition , the presence of seizures and electrophysiological abnormalities only in the 3 patients and in none of the other unaffected sibs suggests t hat the mutation is responsible for neurologic involvement.